PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing
Author:
Affiliation:
1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
2. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0089
Reference13 articles.
1. PORCNmutations in focal dermal hypoplasia: coping with lethality
2. Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine
3. PORCNgene mutations and the protean nature of focal dermal hypoplasia
4. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene
5. NovelPORCNmutations in focal dermal hypoplasia
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