ALLMedicine™ Achondrogenesis Type 2 Center
Research & Reviews 4 results
https://doi.org/10.1002/ajmg.a.61414
American Journal of Medical Genetics. Part A REFERENCES; Girisha KM, Bhavani GS et. al.
Nov 23rd, 2019 - The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2...
https://doi.org/10.2350/13-02-1305-OA.1
Pediatric and Developmental Pathology : the Official Jour... Weisman PS, Kashireddy PV et. al.
Oct 23rd, 2013 - As a group, lethal genetic skeletal disorders (GSDs) usually result in death within the perinatal period. Because lethal GSDs are often ultrasonographically detectible by early midtrimester, dilation and evacuation (D&E) is the method of choice fo...
https://doi.org/10.1002/ajmg.a.35303
American Journal of Medical Genetics. Part A; Nagendran S, Richards AJ et. al.
Apr 13th, 2012 - Mutations in COL2A1, the gene for type II-collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative mutations tend to result in severe and often lethal skeletal dysplasias such as achondrogen...
https://doi.org/10.1002/ajmg.a.33463
American Journal of Medical Genetics. Part A; Comstock JM, Putnam AR et. al.
Jun 29th, 2010 - Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from ...