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ALLMedicine™ Achondrogenesis Type 1a Center

Research & Reviews  2 results

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontoc...
American Journal of Medical Genetics. Part A; Medina CTN, Sandoval R et. al.

Jan 7th, 2020 - The thyroid hormone receptor interactor 11 (TRIP11) gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), a protein essential for the operation of the Golgi apparatus. It is known that null mutations in TRIP11 disrupt Golgi functio...

Achondrogenesis type 1A

Oct 18th, 2013 - Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause l...

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