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
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.
Ramirez-Botero AF et al.
Congenital Anomalies, 2016
Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.
Arias-Llorente RP et al.
Fetal and Pediatric Pathology, 2015
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