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
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
Yu J et al.
Journal of Cell Science, 2021
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
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.
Madan S et al.
Molecular Genetics and Metabolism Reports, 2017
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