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Last Updated: 10/31/2025
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Found 384 publications
A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.
Journal: Prenatal diagnosis
Published: April 11, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.
Journal: Clinical genetics
Published: December 06, 2024
Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: October 14, 2024
Focal dermal hypoplasia: The conflicting characteristics of prenatal and long-term follow-up images of skin anomalies.
Journal: Journal of clinical ultrasound : JCU
Published: June 11, 2024
Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.
Journal: SAGE open medical case reports
Published: March 08, 2024
Aborted sudden cardiac death in a young patient with epilepsy and the Gorlin Goltz syndrome.
Journal: Epilepsy & behavior reports
Published: March 06, 2024
Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.
Journal: BMJ case reports
Published: February 14, 2024
Last Updated: 10/31/2025