| Literature DB >> 23824731 |
Karen Low1, James Smith, Simon Lee, Ruth Newbury-Ecob.
Abstract
A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. .Entities:
Keywords: brachydactyly; broad hallux; delta phalanx; deviated toes; hypoplastic thumbs; pectus deformity
Mesh：
Year: 2013 PMID： 23824731 DOI： 10.1002/ajmg.a.36016
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802