Associated Papers
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Mary L et al.
American Journal of Medical Genetics. Part A, 2017
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
Fernandes PH et al.
Genetic Testing and Molecular Biomarkers, 2010
PORCN gene mutations and the protean nature of focal dermal hypoplasia.
Clements SE et al.
The British Journal of Dermatology, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D et al.
Human Mutation, 2009
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.
Leoyklang P et al.
Clinical Genetics, 2008
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
Grzeschik KH et al.
Nature Genetics, 2007
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