• <em>PORCN</em>-Related Developmental Disorders
• A Long-Term Follow-Up of a Patient with a Novel <em>PORCN</em> Variant and Additional Clinical Features
• A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review
• Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome
• Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
• Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome
• Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues
• Esophageal Manifestations of Dermatological Diseases, Diagnosis and Management
• Extensive blaschkoid macules and patches since birth
• Fat herniation over striae distansea in focal dermal hypoplasia treated with 2940 nm Er:YAG Laser
• Focal Dermal Hypoplasia
• Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations
• Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report
• Focal Dermal Hypoplasia (Goltz Syndrome): A Rare Case
• Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
• Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form
• Focal Dermal Hypoplasia with Osteopathia Striata
• Focal Dermal Hypoplasia: Case Series
• Goltz Syndrome Combined with Triple X Syndrome, a Case Report
• Nevus lipomatosus superficialis, an unusual case report
• Porcn is essential for growth and invagination of the mammalian optic cup
• Postmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques
• Prenatal Diagnosis of Gómez-López-Hernández Syndrome
• Prevalence rates for ectodermal dysplasia syndromes
• Progression and flaring of focal dermal hypoplasia during an acute illness
• Urogenital presentation of a male patient with focal dermal hypoplasia