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
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
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM et al.
Journal of Medical Genetics, 2009
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