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A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
Author(s) -
Low Karen,
Smith James,
Lee Simon,
NewburyEcob Ruth
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36016
Subject(s) - daughter , pectus excavatum , phenotype , brachydactyly , genetics , biology , evolutionary biology , gene , endocrinology , short stature
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. © 2013 Wiley Periodicals, Inc.