Multiple synostoses syndrome: Clinical report and retrospective analysis

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

(2019) Yilai Shu et al.   Journal of Genetics and Genomics

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

(2018) Marie Westergaard-Nielsen et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novelNOGmutation and without hearing loss

(2016) Allan Bayat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

(2015) Takashi Ishino et al.   European Journal of Medical Genetics

Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations

(2014) Beom Hee Lee et al.   JOINT BONE SPINE

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

(2014) Akira Ganaha et al.   JOURNAL OF HUMAN GENETICS

Mutations in theNOGgene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

(2012) S Usami et al.   CLINICAL GENETICS

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD)

(2011) Tommy A. Potti et al.   HUMAN MUTATION

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

(2010) Sabine Rudnik-Schöneborn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The facio-audio-symphalangism syndrome: report of a case and review of the literature

(2010) S. A. Hurvitz et al.   CLINICAL GENETICS

Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings

(2010) Jonathan A. Joseph et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism

(2008) Reiko Shimizu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes

(2008) Nir Hirshoren et al.   European Journal of Medical Genetics

Growth and Skeletal Development in Families with NOGGIN Gene Mutations

(2008) C.D. Oxley et al.   Hormone Research in Paediatrics