A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly-Reference-Cited by-同舟云学术

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

Published:2018-03-30 Issue:6 Volume:39 Page:822-826
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pagnamenta Alistair T.¹^ORCID,Murakami Yoshiko²³^ORCID,Anzilotti Consuelo⁴,Titheradge Hannah⁵,Oates Adam J.⁶,Morton Jenny⁵,Kinoshita Taroh²³,Kini Usha⁷,Taylor Jenny C.¹,

Affiliation:

1. National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics; University of Oxford; Oxford Oxfordshire UK

2. Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases; Osaka University; Osaka Japan

3. World Premier International Immunology Frontier Research Center; Osaka University; Osaka Japan

4. Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine; John Radcliffe Hospital, University of Oxford; Oxford UK

5. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust; Birmingham Women's Hospital, Mindelsohn Way; Edgbaston Birmingham UK

6. Radiology Department; Birmingham Children's Hospital; Birmingham UK

7. Oxford Centre for Genomic Medicine; Oxford University Hospitals NHS Foundation Trust; Oxford UK

Funder

Wellcome Trust

National Institute for Health Research

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Health Innovation Challenge Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics