Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum

LeBlanc, S; David, D; Colley, A; Buckley, M; Roscioli, T; Barnett, C

Barnett, C (reprint author), Womens & Childrens Hosp, Paediat & Reprod Genet Unit, 72 King William Rd, Adelaide, SA 5006, Australia.

MOLECULAR SYNDROMOLOGY, 2018; 9 (3): 149

Abstract

Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 (FGFR2) ......

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