Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. (Q52089031)

22 April 2018

http://europepmc.org/abstract/MED/28742248

title

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. (English)

1 reference

22 April 2018

http://europepmc.org/abstract/MED/28742248

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Eberhard Siebert

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Ulrich Seidel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Imma Rost

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Karin Mayer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Diana Mitter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Uwe Kornak

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6 June 2020

language of work or name

English

0 references

publication date

25 July 2017

1 reference

22 April 2018

http://europepmc.org/abstract/MED/28742248

published in

American Journal of Medical Genetics

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6 June 2020

volume

173

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6 June 2020

issue

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6 June 2020

page(s)

2534-2538

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6 June 2020

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Ehlers-Danlos syndrome type IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

G protein-coupled receptor-dependent development of human frontal cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38345

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json