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About 60 results

ALLMedicine™ Achondrogenesis Center

Research & Reviews  24 results

Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.
https://doi.org/10.1002/ajmg.a.62260
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 ...

Description of four patients with TRIP11 variants expand the clinical spectrum of odont...
https://doi.org/10.1016/j.ejmg.2021.104198
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 ...

Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computeriz...
https://doi.org/10.1016/j.clinimag.2020.10.013
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...

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontoc...
https://doi.org/10.1002/ajmg.a.61460
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...

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogen...
https://doi.org/10.1002/ajmg.a.61469
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...

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