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Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate
Author(s) -
Meyer Sascha,
Löffler Günther,
Gencik Martin,
Fries Peter,
Papanagiotou Panagiotis,
OehlJaschkowitz Barbara,
Gortner Ludwig
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.35758
Subject(s) - university hospital , neonatology , medicine , pediatrics , missense mutation , family medicine , genetics , mutation , biology , pregnancy , gene