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

Solomon, B. D., Bear, K. A., Wyllie, A. and Hehr, Ute (2012) Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Journal of Medical Genetics 49, pp. 473-479.

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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 ...

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Item type:Article
Date:2012
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1136/jmedgenet-2012-101008DOI
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:36148
Owner only: item control page

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