Disease: Focal dermal hypoplasia
- <em>PORCN</em>-Related Developmental Disorders
- 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
- 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 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
- Progression and flaring of focal dermal hypoplasia during an acute illness
- Urogenital presentation of a male patient with focal dermal hypoplasia