The PORCN non‐Goltz spectrum ( PONGOS ): A new group of genetic disorders
Author:
Affiliation:
1. Department of Dermatology Medical Center, University of Freiburg Freiburg Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61984
Reference8 articles.
1. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)
2. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
3. Hypomorphic alleles within theEBPgene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome
4. Relationship Between Hypomorphic Alleles and Mosaicism of Lethal Mutations
5. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia
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1. Ectodermal Dysplasias;Rook's Textbook of Dermatology;2024-02-20
2. Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype;Prenatal Diagnosis;2023-09-12
3. Relationship Between Hypomorphic Alleles and Mosaicism of X-Linked or Autosomal Mutations;Mosaicism in Human Skin;2022-11-24
4. PORCN ‐related microphthalmia with limb anomalies: Case report and literature review;American Journal of Medical Genetics Part A;2022-11-19
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