A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

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第一作者： Zehra,Agha

第一单位： Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

作者： Zehra,Agha ^[1] ; Zafar,Iqbal ^[2] ; Maleeha,Azam ^[3] ; Maimoona,Siddique ^[4] ; Marjolein H,Willemsen ^[2] ; Tjitske,Kleefstra ^[2] ; Christiane,Zweier ^[5] ; Nicole,de Leeuw ^[2] ; Raheel,Qamar ^[6] ; Hans,van Bokhoven ^[7]

作者单位： Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands. ^[1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands. ^[2] Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan. ^[3] Shifa International Hospital, Islamabad, Pakistan. ^[4] Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany. ^[5] Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan. ^[6] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands. Electronic address: Hans.vanbokhoven@radboudumc.nl. ^[7]

关键词 Human congenital microcephaly syndrome Intellectual disability Jawad syndrome NRXN1 Psychiatric disorders RBBP8 Seckel syndrome