A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss-Reference-Cited by-同舟云学术

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

Published:2012-08-10 Issue:10 Volume:158A Page:2577-2582
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pagnamenta Alistair T.¹,Murray Jennie E.²,Yoon Grace³,Akha Elham Sadighi¹,Harrison Victoria⁴,Bicknell Louise S.²,Ajilogba Kaseem⁵,Stewart Helen⁴,Kini Usha⁴,Taylor Jenny C.¹,Keays David A.⁶,Jackson Andrew P.²,Knight Samantha J.L.¹

Affiliation:

1. NIHR Biomedical Research Centre, Oxford and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK

2. MRC Human Genetics Unit at the MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK

3. Division of Clinical and Metabolic Genetics; Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

4. Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK

5. Department of Paediatric Radiology, Royal Hospital for Sick Children, NHS Lothian, Edinburgh, UK

6. Research Institute of Molecular Pathology, Vienna, Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35558

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1. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

2. ASPM is a major determinant of cerebral cortical size