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Maternal 21‐hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21‐hydroxylase deficiency and Klinefelter syndrome
Author(s) -
Parker Elizabeth A.,
Hovanes Karine,
Germak John,
Porter Forbes,
Merke Deborah P.
Publication year - 2006
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.31408
Subject(s) - medicine , child health , medical genetics , gerontology , family medicine , pediatrics , genetics , biology , gene