Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature-Reference-Cited by-同舟云学术

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Published:2018-09-21 Issue:11 Volume:6 Page:2103-2110
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Frisk Sofia¹²^ORCID,Grandpeix-Guyodo Catherine³,Popovic Silwerfeldt Karin³,Hjartarson Helgi Thor⁴,Chatzianastassiou Dimitris⁵,Magnusson Irina³,Laurell Tobias¹⁶,Nordgren Ann¹²

Affiliation:

1. Department of Molecular Medicine and Surgery; Center of Molecular Medicine; Karolinska Institutet; Stockholm Sweden

2. Department of Clinical Genetics; Karolinska University Laboratory; Karolinska University Hospital; Stockholm Sweden

3. Department of Dermatology; Danderyd Hospital; Stockholm Sweden

4. Department of Neuropediatrics; Astrid Lindgren Children's Hospital; Stockholm Sweden

5. Department of Clinical Pathology; Karolinska University Hospital; Stockholm Sweden

6. Department of Hand Surgery; Södersjukhuset; Stockholm Sweden

Funder

Barncancerfonden

Cancerfonden

Hjärnfonden

Stockholms Läns Landsting

Karolinska Institutet

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1783/fullpdf

Reference25 articles.

1. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome;Peters;Pediatr Dermatol,2014

2. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals;Bostwick;Am J Med Genet C Semin Med Genet,2016

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

4. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia;Wang;Nat Genet,2007

5. Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome;Alkindi;Pediatr Dermatol,2013

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1. Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome;BMJ Case Reports;2024-02

2. A Long-Term Follow-Up of a Patient with a Novel <i>PORCN</i> Variant and Additional Clinical Features;Molecular Syndromology;2024

3. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification;Frontiers in Physiology;2023-05-09

4. Urogenital presentation of a male patient with focal dermal hypoplasia;Pediatric Dermatology;2023-02-15

5. The role of Evi/Wntless in exporting Wnt proteins;Development;2023-02-10