Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion
Author:
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-3083.2010.03782.x/fullpdf
Reference14 articles.
1. A Wnt survival guide: from flies to human disease;Chien;J Invest Dermatol,2009
2. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007
3. A superfamily of membrane-bound O-acyltransferases with implications for wnt signaling;Hofmann;Trends Biochem Sci,2000
4. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome;Maas;J Med Genet,2009
5. Minimal focal dermal hypoplasia in a man: a case of father-to-daughter transmission;Mahe;J Am Acad Dermatol,1991
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1. Focal Dermal Hypoplasia;Indian Journal of Dermatology;2023-01
2. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects;Orphanet Journal of Rare Diseases;2022-01-31
3. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2021-04-20
4. High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders;Frontiers in Endocrinology;2020-02-04
5. Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature;Clinical Case Reports;2018-09-21
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