Clinical utility gene card for: Mowat-Wilson syndrome.
作者信息
Zollino Marcella, Garavelli Livia, Rauch Anita
机构信息
Institute of Medical Genetics A Gemelli Catholic University of Rome, Rome, Italy.
出版信息
Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23.
Abstract
摘要
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Childs Nerv Syst. 2008 May;24(5):615-8. doi: 10.1007/s00381-007-0557-5. Epub 2008 Feb 8.
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Mowat-Wilson syndrome affecting 3 siblings.
J Child Neurol. 2008 Mar;23(3):274-8. doi: 10.1177/0883073807309231. Epub 2008 Jan 29.
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Mowat-Wilson syndrome with craniosynostosis: a case report.
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Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.两名患有莫瓦特-威尔逊综合征的日本女孩中ZFHX1B基因的无义突变。
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Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.
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A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.由于复杂的染色体重排导致2号染色体2区2带出现6兆碱基的缺失，这与严重的精神运动发育迟缓、小头畸形以及独特的面部畸形特征相关。
Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. doi: 10.1016/j.ejmg.2006.11.004. Epub 2006 Dec 8.
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