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• W2138249533 abstract "The Simpson–Golabi–Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd–3rd finger syndactyly. © 2012 Wiley Periodicals, Inc." @default.
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• W2138249533 date "2012-07-17" @default.
• W2138249533 modified "2023-10-16" @default.
• W2138249533 title "Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia" @default.
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• W2138249533 doi "https://doi.org/10.1002/ajmg.a.35474" @default.
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