ALLMedicine™ Achondrogenesis Center
Research & Reviews 24 results
American Journal of Medical Genetics. Part A; Qian Y, Hu G et. al.
May 21st, 2021 - Mutations of the thyroid hormone receptor interactor 11 gene (TRIP11, OMIM: 604505) at 14q32.12 have been associated with the autosomal recessive achondrogenesis type IA (ACG1A, OMIM: 200600) or osteochondrodysplasia (ODCD, OMIM: 184260). In this ...
European Journal of Medical Genetics; Del Pino M, Sanchez-Soler MJ et. al.
Mar 23rd, 2021 - More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene ...
Clinical Imaging; Bisht RU, Belthur MV et. al.
Oct 19th, 2020 - We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis ty...
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...
American Journal of Medical Genetics. Part A; Sato T, Kojima T et. al.
Dec 28th, 2019 - We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation i...