Associated Papers
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.
Bilgeç N et al.
Molecular Syndromology, 2025
The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.
Happle R
American Journal of Medical Genetics. Part A, 2021
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.
Frisk S et al.
Clinical Case Reports, 2018
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
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
Brady PD et al.
European Journal of Human Genetics : Ejhg, 2015
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