Is webbing (pterygia) a constant feature in patients with Escobar syndrome? (Q86801813)

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scientific article published on 01 November 2013

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English	Is webbing (pterygia) a constant feature in patients with Escobar syndrome?	scientific article published on 01 November 2013

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instance of

scholarly article

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stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

case report

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title

Is webbing (pterygia) a constant feature in patients with Escobar syndrome? (English)

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

author

Klaus Klaushofer

series ordinal

5

object named as

Klaus Klaushofer

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

author name string

Ali Al Kaissi

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

Vladimir Kenis

series ordinal

2

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Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

Sergey Laptiev

series ordinal

3

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

Maher Ben Ghachem

series ordinal

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

Rudolf Ganger

series ordinal

6

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

Franz Grill

series ordinal

7

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

publication date

1 November 2013

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stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

published in

Orthopaedic surgery

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

volume

5

1 reference

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Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

issue

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

page(s)

297-301

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

cites work

Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of multiple pterygium syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arthrogryposis multiplex congenita

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Popliteal pterygium syndrome: an orthopaedic perspective.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arthrogryposis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple pterygium syndrome. An overview

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple pterygium syndrome: evolution of the phenotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and malignant hyperthermia.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arthrogryposis Multiplex Congenita as Part of an Inherited Symptom Complex: Two Case Reports and a Review of the Literature

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple pterygium syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two sisters with Escobar syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of limb deformities by the Ilizarov method

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple pterygium syndrome with body asymmetry

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24254455

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1111/OS.12064

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

PMC publication ID

6583299

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

PubMed publication ID

24254455

1 reference

stated in

Europe PubMed Central

PMC publication ID

6583299

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24254455%20AND%20SRC:MED&resulttype=core&format=json

retrieved

1 March 2020

 

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