Adult presentation of X-linked Conradi-Hünermann-Happle syndrome-Reference-Cited by-同舟云学术

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

Published:2015-04-02 Issue:6 Volume:167 Page:1309-1314
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Posey Jennifer E.¹,Burrage Lindsay C.¹,Campeau Philippe M.¹,Lu James T.²³,Eble Tanya N.¹,Kratz Lisa⁴,Schlesinger Alan E.⁵,Gibbs Richard A.²,Lee Brendan H.¹⁶,Nagamani Sandesh C.S.¹

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

3. Department of Structural and Computational Biology & Molecular Physics; Baylor College of Medicine; Houston Texas

4. Department of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland

5. Department of Pediatric Radiology; Texas Children's Hospital; Houston Texas

6. Howard Hughes Medical Institute; Houston; Texas

Funder

Baylor College of Medicine Intellectual and Developmental Disabilities Research Center

National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36899/fullpdf

Reference25 articles.

1. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome;Braverman;Nat Genet,1999

2. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis;Campeau;Hum Mol Genet,2012

3. 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

4. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome;Cañueto;Biochim Biophys Acta,2014

5. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata;Derry;Nat Genet,1999

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