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Apert syndrome and fetal hydrocephaly

✍ Scribed by Hyon Kim; Vijay Uppal; R. Wallach

Book ID: 104708179
Publisher: Springer
Year: 1986
Tongue: English
Weight: 960 KB
Volume: 73
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00292674

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Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum