Focal dermal hypoplasia without focal dermal hypoplasia

Author:

Contreras-Capetillo Silvina N.1,Lombardi Maria Paola2,Pinto-Escalante Doris1,Hennekam Raoul C.23

Affiliation:

1. Departamento de Genética; Centro de Investigaciones Regionales Dr. Hideyo Noguchi; Mérida Yucatán, México

2. Department of Clinical Genetics, Academic Medical Center; University of Amsterdam; The Netherlands

3. Department of Pediatrics, Academic Medical Center; University of Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Possible examples of the Goltz syndrome (focal dermal hypoplasia) without linear areas of skin hypoplasia;Aymé;Birth defects Orig Artic Ser,1982

2. Focal dermal hypoplasia;Goltz;Pediatr Dermatol,1990

3. Focal dermal hypoplasia;Goltz;Arch Dermatol,1962

4. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007

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1. Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report;Pediatric Dermatology;2024-09-10

2. Angioma‐serpiginosum‐like and hyperkeratotic lesion in a patient with Goltz syndrome;Journal of Cutaneous Pathology;2021-12-20

3. Ocular Manifestations of Dermatologic Diseases;The Eye in Pediatric Systemic Disease;2017

4. Gynecologic findings in Goltz syndrome: A case series;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2016-02-01

5. Goltz syndrome and PORCN : A view from Europe;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2016-01-22

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