Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

URN to cite this document:: urn:nbn:de:bvb:355-epub-361481
DOI to cite this document:: 10.5283/epub.36148

Solomon, B. D. ; Bear, K. A. ; Wyllie, A. ; Hehr, Ute ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;

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Date of publication of this fulltext: 05 Sep 2017 12:11

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Abstract

Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences. Objective To ...