Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
作者:
Carol-Anne,Martin [1]
;
Jennie E,Murray [1]
;
Paula,Carroll [1]
;
Andrea,Leitch [1]
;
Karen J,Mackenzie [1]
;
Mihail,Halachev [1]
;
Ahmed E,Fetit [1]
;
Charlotte,Keith [2]
;
Louise S,Bicknell [1]
;
Adeline,Fluteau [3]
;
Philippe,Gautier [1]
;
Emma A,Hall [1]
;
Shelagh,Joss [1]
;
Gabriela,Soares [4]
;
João,Silva [5]
;
Michael B,Bober [6]
;
Angela,Duker [7]
;
Carol A,Wise [8]
;
Alan J,Quigley [8]
;
Shubha R,Phadke [9]
;
Deciphering Developmental Disorders Study [10]
;
Andrew J,Wood [11]
;
Paola,Vagnarelli [12]
;
Andrew P,Jackson [13]
作者单位:
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
[1]
South East Scotland Cytogenetics Service, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
[2]
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
[3]
West of Scotland Genetic Service, Southern General Hospital, Glasgow G51 4TF, United Kingdom.
[4]
Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, 4099-028 Porto, Portugal.
[5]
Instituto de Biologia Molecular e Celular (IBMC), 4150 Porto, Portugal.
[6]
Instituto de Investigação e Inovação em Saúde (I3S), Universidade do Porto, 4200-135 Porto, Portugal.
[7]
Division of Genetics, Department of Pediatrics, A.I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.
[8]
Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.
[9]
Department of Orthopedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.
[10]
Department of Pediatrics, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.
[11]
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas 75350, USA.
[12]
Department of Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, United Kingdom.
[13]
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India.
[14]
Biosciences, Research Institute for Health and Environment, Brunel University, London UB8 3PH, United Kingdom.
[15]
期刊:
《Genes & development》
2016年30卷19期2158-2172页
DOI:
10.1101/gad.286351.116
PMID:
27737959
发布时间:
2022-01-29
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