Ontology highlight
ABSTRACT:
SUBMITTER: Takano K
PROVIDER: S-EPMC4972895 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Takano Kenichi K Ogasawara Noriko N Matsunaga Tatsuo T Mutai Hideki H Sakurai Akihiro A Ishikawa Aki A Himi Tetsuo T
Human genome variation 20160804
The human noggin (NOG) gene is responsible for a broad spectrum of clinical manifestations of NOG-related symphalangism spectrum disorder (NOG-SSD), which include proximal symphalangism, multiple synostoses, stapes ankylosis with broad thumbs (SABTT), tarsal-carpal coalition syndrome, and brachydactyly type B2. Some of these disorders exhibit phenotypes associated with congenital stapes ankylosis. In the present study, we describe a Japanese pedigree with dactylosymphysis and conductive hearing ...[more]