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Goltz syndrome andPORCNmosaicism

  • Published:2014-07-11 Issue:12 Volume:53 Page:1481-1484
  • ISSN:0011-9059
  • Container-title:International Journal of Dermatology
  • language:en
  • Short-container-title:Int J Dermatol

Author:

Stevenson David A.1,Chirpich Meghan12,Contreras Yvonne2,Hanson Heather1,Dent Karin1

Affiliation:

1. Department of Pediatrics; University of Utah; Salt Lake City UT USA

2. Intermountain Healthcare; Salt Lake City UT USA

Funder

University of Utah Clinical Genetics Research Program: Phenotyping Core (CGRP)

National Center for Research Resources

National Center for Advancing Translational Sciences

National Institutes of Health

Publisher

Wiley

Subject

Dermatology

Reference26 articles.

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

2. Focal dermal hypoplasia syndrome;Gorlin;Acta Derm Venereol,1963

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

4. Goltz syndrome in a moderately affected newborn boy;Tollefson;Int J Dermatol,2009

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

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1. The development of hair follicles and nail;Developmental Biology;2024-09

2. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects;Orphanet Journal of Rare Diseases;2022-01-31

3. MIDAS Syndrome (Microphthalmia with Linear Skin Defects);Neurocutaneous Disorders;2022

4. Genetics in Oculoplastics;Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery;2020-08-05

5. WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders;Frontiers in Endocrinology;2020-04-09
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