Genetics of human isolated acromesomelic dysplasia
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference68 articles.
1. Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5);Akarsu;Am. J. Hum. Genet. Suppl.,1999
2. Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family;Al-Yahyaee;Am. J. Med. Genet.,2003
3. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux;Bartels;Am. J. Hum. Genet.,2004
4. A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family;Basit;BMC Med. Genet.,2008
5. Acromesomelic dwarfism in a child with an interesting family history;Borrelli;Pediatr. Radiol.,1983
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