BRF1mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies-Reference-Cited by-同舟云学术

BRF1mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

Published:2016-12-12 Issue:5 Volume:91 Page:739-747
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Jee Y.H.¹,Sowada N.²,Markello T.C.³,Rezvani I.⁴,Borck G.²,Baron J.¹

Affiliation:

1. Section on Growth and Development; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Bethesda Maryland USA

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

3. Undiagnosed Diseases Program; National Human Genome Research Institute, National Institutes of Health; Bethesda Maryland USA

4. Section of Pediatric Endocrinology and Diabetes, Department of Pediatrics; St. Christopher's Hospital of Children; Philadelphia PA USA

Funder

Intramural Research Programs of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Intramural Research Program of the National Human Genome Research Institute and the Common Fund of the National Institutes of Health

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12887/fullpdf

Reference26 articles.

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2. Short and tall stature: a new paradigm emerges;Baron;Nat Rev Endocrinol,2015

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4. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010

5. Analysis of DNA sequence variants detected by high-throughput sequencing;Adams;Hum Mutat,2012

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