Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome (Q28277217)

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Zhongming Zhao

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Emma Howard

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Michael Malass

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Dian Donnai

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Forbes D C Manson

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Dédée Murrell

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Raymond A Clarke

GDF6, a novel locus for a spectrum of ocular developmental anomalies

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language of work or name

English

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publication date

August 2008

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1017-27

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum

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7 January 2021

Klippel-Feil syndrome associated with malformed larynx. Case report

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7 January 2021

Heterogeneity in Klippel-Feil syndrome: a new classification

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7 January 2021

Detecting polymorphisms and mutations in candidate genes

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7 January 2021

The mutational spectrum of brachydactyly type C

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7 January 2021

VISTA: computational tools for comparative genomics

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7 January 2021

De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel‐Feil anomaly and type A1 brachydactyly

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Mutation of an upstream cleavage site in the BMP4 prodomain leads to tissue-specific loss of activity.

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion

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7 January 2021

Eye and neural defects associated with loss of GDF6

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

A Case of Absence of Cervical Vertebrae with the Thoracic Cage Rising to the Base of the Cranium (Cervical Thoracic Cage)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

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7 January 2021

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

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7 January 2021

Familial os odontoideum. Case report

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7 January 2021

A general approach for identifying distant regulatory elements applied to the Gdf6 gene

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Coordinate expression of BMP-2, BMP receptors and Noggin in normal mouse spine

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

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7 January 2021

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

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7 January 2021

Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer

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7 January 2021

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

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7 January 2021

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

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7 January 2021

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome

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7 January 2021

Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome?

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

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https://api.crossref.org/works/10.1002%2FHUMU.20741

7 January 2021