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ALLMedicine™ Achondrogenesis Type 2 Center

Research & Reviews  4 results

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phen...
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...

Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and e...
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...

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
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...

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism.
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 ...

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