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    Hand Book of Fractures / by Hand Book of Fractures

    Published 2006
    View in OPAC
    Book
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    Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene by Guy Massa, Philippe Gillis, Marianne Schwartz

    Published 2011-01-01
    “…The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. …”
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