Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold-Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome-Reference-Cited by-同舟云学术

Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold-Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

Published:2014-01-05 Issue:2 Volume:31 Page:220-224
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Peters Tess¹,Perrier Renee²,Haber Richard M.¹

Affiliation:

1. Division of Dermatology; University of Calgary; Calgary Alberta Canada

2. Division of Clinical Genetics; Alberta Children's Hospital; Calgary Alberta Canada

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12267/fullpdf

Reference22 articles.

1. Falldemonstration Breslauer dermatologische Vereinigung;Jessner;Arch Dermatol Syph,1921

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

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. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome;Maas;J Med Genet,2009

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5. Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients;PLOS ONE;2020-09-24