Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome;Barrott;Proc Natl Acad Sci,2011
2. Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos;Biechele;Dev Biol,2011
3. PORCN mutations in focal dermal hypoplasia: coping with lethality;Bornholdt;Hum Mutat,2009
4. Outpatient Tonsillectomy in Children: Demographic and Geographic Variation in the United States, 2006;Boss;J Pediatr,2012
5. PORCN gene mutations and the protean nature of focal dermal hypoplasia;Clements;Br J Dermatol,2009
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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. Ectodermal Dysplasia – An Overview and Update;Indian Dermatology Online Journal;2024-04-23
3. Fokale dermale Hypoplasie durch pathogene Variante im PORCN-Gen in postzygotischer, unilateraler Mosaik-Konstellation;Die Dermatologie;2024-02-16
4. Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome;BMJ Case Reports;2024-02
5. Congenital and Hereditary Disorders of the Skin;Avery's Diseases of the Newborn;2024
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