Associated Papers
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B et al.
Neurology. Genetics, 2022
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Elhossini RM et al.
Congenital Anomalies, 2022
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
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.
Smigiel R et al.
American Journal of Medical Genetics. Part A, 2011
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
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G et al.
Clinical Genetics, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D et al.
Human Mutation, 2009
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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