Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly-Reference-Cited by-同舟云学术

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

Published:2017-09-19 Issue:24 Volume:26 Page:4836-4848
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

DiStasio Andrew¹,Driver Ashley¹,Sund Kristen¹,Donlin Milene¹,Muraleedharan Ranjith M²,Pooya Shabnam²,Kline-Fath Beth³,Kaufman Kenneth M⁴,Prows Cynthia A¹⁵,Schorry Elizabeth¹,Dasgupta Biplab²,Stottmann Rolf W¹⁶

Affiliation:

1. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

2. Division of Hematology and Oncology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

3. Department of Radiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

4. Division of Rheumatology and Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

5. Division of Patient Services, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

6. Division of Developmental Biology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

Funder

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/24/4836/24339181/ddx362.pdf

Reference51 articles.

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3. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected];Alkuraya;Am. J. Hum. Genet,2011

4. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations;Bilgüvar;Nature,2010

5. ASPM is a major determinant of cerebral cortical size;Bond;Nat. Genet,2002

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