The NOG gene encodes noggin, a secreted polypeptide that is important for regulating
multiple signaling pathways during human development, particularly in cartilage and bone …

Pluripotent stem cells (PSCs) offer many potential research and clinical benefits due to their
ability to differentiate into nearly every cell type in the body. They are often used as model …

The human noggin (NOG) gene is responsible for a broad spectrum of clinical
manifestations of NOG-related symphalangism spectrum disorder (NOG-SSD), which …

Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N. Mutations in the NOG
gene are commonly found in congenital stapes ankylosis with symphalangism, but not in …

In this study, we describe three unrelated Japanese patients with hearing loss and
symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical …

Abstract Deletions involving 17q21–q24 have been identified previously to result in two
clinically recognizable contiguous gene deletion syndromes: 17q21. 31 and 17q23. 1–q23 …

Human noggin (NOG) gene mutation causes multiple bony disorders showing up as stapes
ankylosis with broad thumbs and toes (SABTT), proximal symphalangism (SYM1), multiple …

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 …

Results The two individuals did not have dysmorphic facial characteristics (hypoplastic alae
nasi and hemicylindrical nose were noticed) and had normal tooth shape and enamel. They …