Focal Dermal Hypoplasia Latest Advances

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 with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

Journal: Molecular syndromology

Published: July 13, 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

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Journal: Pediatric dermatology

Published: June 07, 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

Filters

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Patient with papillomatous lesions.

Patient with papillomatous lesions.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

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.

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.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.

Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

Focal dermal hypoplasia: The conflicting characteristics of prenatal and long-term follow-up images of skin anomalies.

Focal dermal hypoplasia: The conflicting characteristics of prenatal and long-term follow-up images of skin anomalies.

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.

Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.

Aborted sudden cardiac death in a young patient with epilepsy and the Gorlin Goltz syndrome.

Aborted sudden cardiac death in a young patient with epilepsy and the Gorlin Goltz syndrome.