Three novel mutations in the PORCN gene underlying focal dermal hypoplasia-Reference-Cited by-同舟云学术

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

Published:2008-03-04 Issue:4 Volume:73 Page:373-379
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Leoyklang P,Suphapeetiporn K,Wananukul S,Shotelersuk V

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.00975.x/fullpdf

Reference8 articles.

1. Focal dermal hypoplasia syndrome. An update;Goltz;Arch Dermatol,1992

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

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

4. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

5. Wnt signaling in focal dermal hypoplasia;Paller;Nat Genet,2007

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1. Focal dermal hypoplasia (Goltz Syndrome): A rare case;Indian Dermatology Online Journal;2022

2. Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner;American Journal of Medical Genetics Part A;2020-10-27

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

4. Mosaicism in genodermatoses;Clinics in Dermatology;2020-07

5. Ectodermal Dysplasias;Harper's Textbook of Pediatric Dermatology;2019-11-20