Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder-Reference-Cited by-同舟云学术

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Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder

Published:2021-05-26 Issue: Volume:Publish Ahead of Print Page:
ISSN:1531-7129
Container-title:Otology & Neurotology
language:en
Short-container-title:

Author:

Carlson Ryan J.,Quesnel Alicia,Wells Dawson,Brownstein Zippora,Gilony Dror,Gulsuner Suleyman,Leppig Kathleen A.,Avraham Karen B.,King Mary-Claire,Walsh Tom,Rubinstein Jay

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Clinical Neurology,Sensory Systems,Otorhinolaryngology

Reference57 articles.

1. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis;Gong;Nat Genet,1999

2. An autosomal dominant inherited syndrome with congential stapes ankylosis;Teunissen;Laryngoscope,1990

3. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin;Brown;Am J Hum Genet,2002

4. Congenital malformation of the feet with low body height: a new syndrome, caused by an autosomal dominant gene;Gregersen;Clin Genet,1977

5. Tarsal and carpal coalition and symphlangism of the Fuhmann type: report of a family;Drawbert;J Bone Jt Surg,1985

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