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Inappropriate tall stature and renal ectopy in a male patient with X‐linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX‐1 gene
Author(s) -
Franzese Adriana,
BrunettiPierri Nicola,
Spadaro Raffaella,
Mukai Tokuo,
Valerio Giuliana
Publication year - 2005
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.30782
Subject(s) - missense mutation , hypoplasia , pediatrics , medicine , listing (finance) , mutation , gene , genetics , biology , finance , economics