伴有无脑回畸形的综合征。 - Suppr

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超能文献

Syndromes with lissencephaly.

作者信息

Pilz D T, Quarrell O W

机构信息

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK.

出版信息

J Med Genet. 1996 Apr;33(4):319-23. doi: 10.1136/jmg.33.4.319.

DOI:10.1136/jmg.33.4.319

PMID:8730288

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050582/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3276/1050582/6d2a19e4d2f1/jmedgene00258-0055-a.jpg

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本文引用的文献

LISSENCEPHALY IN 2 SIBLINGS.两名兄弟姐妹患无脑回畸形。

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Walker-Warburg syndrome: prenatal ultrasound findings.沃克-沃尔堡综合征：产前超声检查结果

Prenat Diagn. 1993 Jul;13(7):575-9. doi: 10.1002/pd.1970130707.

Development of the cortical dysplasia of type II lissencephaly.

Neuropathol Appl Neurobiol. 1993 Jun;19(3):209-13. doi: 10.1111/j.1365-2990.1993.tb00430.x.

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.一个含有G蛋白β亚基样重复序列的米勒-迪克尔平滑脑基因的分离。

Nature. 1993 Aug 19;364(6439):717-21. doi: 10.1038/364717a0.

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.福山型先天性肌营养不良基因定位于9号染色体q31 - 33区域。

Nat Genet. 1993 Nov;5(3):283-6. doi: 10.1038/ng1193-283.

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993.第22届由欧洲神经肌肉中心（ENMC）主办的先天性肌营养不良研讨会于1993年5月14日至16日在荷兰巴恩举行。

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