ALLMedicine™ Achondrogenesis Type 2 Center
Research & Reviews 4 results
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...
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...
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...
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 ...