Conradi-Hünermann-Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C)-Reference-Cited by-同舟云学术

Conradi-Hünermann-Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C)

Published:2014-06-11 Issue:4 Volume:31 Page:493-496
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:

Author:

Lambrecht Charlotte¹,Wouters Carine²,Van Esch Hilde³,Moens Pierre⁴,Casteels Ingele⁵,Morren Marie-Anne¹

Affiliation:

1. Department of Dermatology; University Hospitals Leuven; Leuven Belgium

2. Department of Pediatric Rheumatology; University Hospitals Leuven; Leuven Belgium

3. Department of Pediatric Orthopedics; University Hospitals Leuven; Leuven Belgium

4. Department of Ophthalmology; University Hospitals Leuven; Leuven Belgium

5. Center for Human Genetics; University Hospitals Leuven; Leuven Belgium

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12336/fullpdf

Reference12 articles.

1. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature;Cañueto;Br J Dermatol,2012

2. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects);Arnold;Br J Dermatol,2012

3. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata;Ikegawa;Am J Med Genet,2000

4. Case of Conradi-Hünerman-Happle syndrome with alopecia: histological examination of affected follicles;Yajima;J Dermatol,2011

5. The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a Δ8-Δ7 sterol isomerase and is biochemically related to the CHILD syndrome;Traupe;Eur J Dermatol,2000

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3. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations;British Journal of Dermatology;2018-08-06

4. Conradi-Hünermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea;Annals of Dermatology;2018

5. Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls;Pediatric Dermatology;2017-07-21