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ALLMedicine™ Atelosteogenesis Type 2 Center

Research & Reviews  4 results

Atelosteogenesis Type 2 - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/ao2/

Sep 23rd, 2020 - Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal b...

Atelosteogenesis type 2
https://rarediseases.info.nih.gov/diseases/8329/atelosteogenesis-type-2

Dec 16th, 2013 - Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis...

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese popu...
https://doi.org/10.1111/j.1399-0004.2010.01595.x
Clinical Genetics; Barbosa M, Sousa AB et. al.

Dec 15th, 2010 - SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epip...

atelosteogenesis type ii (Concept Id: C1850554) - MedGen - NCBI
https://www.ncbi.nlm.nih.gov/books/?Cmd=Link&Db=medgen&DbFrom=books&IdsFromResult=1465062&LinkName=books_medgen

Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal b...

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