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