The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant
congenital conductive hearing loss due to stapes ankylosis The p.(Pro170Leu) variant in NOG …

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant
disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by …

Abstract Background Proximal symphalangism (SYM1; OMIM 185800), also called
Cushing's symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient …

Background Proximal symphalangism is a rare disease with multiple phenotypes including
reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger …

Objective Evaluation of clinical findings and audiological outcome after surgery in a Danish
family with autosomal dominant facio-audio-symphalangism syndrome with stapes fixation …

Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by
ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and …

Objective Analyze the clinical and genetic characteristics of a rare Chinese family with
Multiple synostoses syndrome and identify the causative variant with the high‐throughput …

Background The noggin protein encoded by the NOG gene can interfere with the binding of
bone morphogenetic protein to its receptor, thus affecting bone and joint development. The …

AFF3-Gen AF4/FMR2 family, member 3 (OMIM* 601464) BDB1 brachydactyly, type B1
(OMIM# 113000) BDB2 brachydactyly, type B2 (OMIM# 611377) BMP bone morphogenetic …

BackgroundNoggin protein encoded by NOG gene can interfere with the binding of bone
morphogenetic protein to its receptor, thus affecting bone and joint develop pment. The …