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About 4 results

ALLMedicine™ Achondrogenesis Type 1a Center

Research & Reviews  2 results

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 6th, 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
https://rarediseases.info.nih.gov/diseases/459/achondrogenesis-type-1a

Oct 17th, 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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Clinicaltrials.gov  2 results

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 6th, 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
https://rarediseases.info.nih.gov/diseases/459/achondrogenesis-type-1a

Oct 17th, 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...

see more →