Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation-Reference-Cited by-同舟云学术

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Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation

Published:2013-07-12 Issue:9 Volume:161 Page:2385-2388
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bode Harald¹,Galm Christoph¹,Hummler Helmut¹,Teller Christopher²,Haas Dorothea³,Gencik Martin⁴

Affiliation:

1. University Children's Hospital; Ulm Germany

2. Institute of Human Genetics; University Hospital; Ulm Germany

3. Division of Inborn Metabolic Diseases, Department of General Pediatrics; University Children's Hospital; Heidelberg Germany

4. Diagenos; Osnabrück Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35985/fullpdf

Reference10 articles.

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

2. 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;Brit J Dermatol,2011

3. A novel X-linked congenital anomaly syndrome associated with an EBP mutation;Furtado;Am J Med Genet Part A,2010

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

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes;Molecular Genetics & Genomic Medicine;2019-08-08

2. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome;European Journal of Human Genetics;2018-08-22

3. Disorders of Sterol Biosynthesis;2017

4. Disorders of sterol biosynthesis;Translational Science of Rare Diseases;2016-11-07

5. TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease;Frontiers in Genetics;2014-12-11

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