Ehlers-Danlos Syndrome Caused by BiallelicTNXBVariants in Patients with Congenital Adrenal Hyperplasia-Reference-Cited by-同舟云学术

Ehlers-Danlos Syndrome Caused by BiallelicTNXBVariants in Patients with Congenital Adrenal Hyperplasia

Published:2016-07-08 Issue:9 Volume:37 Page:893-897
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Wuyan¹,Perritt Ashley F.²,Morissette Rachel²,Dreiling Jennifer L.³,Bohn Markus-Frederik⁴,Mallappa Ashwini²,Xu Zhi⁵,Quezado Martha³,Merke Deborah P.²⁶

Affiliation:

1. PreventionGenetics; Marshfield Wisconsin

2. National Institutes of Health Clinical Center; Bethesda Maryland

3. Laboratory of Pathology; National Cancer Institute; Bethesda Maryland

4. Department of Pharmaceutical Chemistry; University of California San Francisco; San Francisco California

5. National Institutes of Health; , National Institute on Aging; Baltimore Maryland

6. The Eunice Kennedy Shriver National Institute of Child Health and Human Development; Bethesda Maryland

Funder

National Institutes of Health Clinical Center

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Cancer Institute

National Institute on Aging

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

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3. Integrated Modeling Program, Applied Chemical Theory (IMPACT);Banks;J Comput Chem,2005

4. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK);Beighton;Am J Med Genet,1998

5. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease;Bergmann;J Am Soc Nephrol,2011

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