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Genetics of human isolated acromesomelic dysplasia.
Khan S, Basit S, Khan MA, Muhammad N, Ahmad W. Khan S, et al. Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011. Epub 2016 Feb 27. Eur J Med Genet. 2016. PMID: 26926249 Review.
Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. ...In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segreg …
Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. ...In late …
Role of the natriuretic peptide system in normal growth and growth disorders.
Vasques GA, Arnhold IJ, Jorge AA. Vasques GA, et al. Horm Res Paediatr. 2014;82(4):222-9. doi: 10.1159/000365049. Epub 2014 Sep 3. Horm Res Paediatr. 2014. PMID: 25196103 Free article. Review.
Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause acromesomelic dysplasia type Maroteux, a skeletal dysplasia with extremely short stature. ...
Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause acromesomelic dysplasia type Maroteux, a skeletal dysplasia wi …