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Craniofrontonasal dysplasia: more severe expression in the mother than in her son.

作者信息

Devriendt K, Van Mol C, Fryns J P

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

Genet Couns. 1995;6(4):361-4.

PMID:8775424
Abstract

Craniofrontonasal dysplasia: more severe expression in the mother than in her son: We report a family with craniofrontonasal dysplasia in a mother and her son. In addition to the typical clinical features, the present case report further illustrates two sofar unexplained observations in craniofrontonasal dysplasia: a more severe clinical expression in females and an increased incidence of miscarriages.

摘要

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引用本文的文献

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Craniofrontonasal dysplasia: A case report.颅额鼻发育不良:一例报告。
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Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.在印度颅面连合发育不全综合征患者中发现 EFNB1 的四个新突变。
J Hum Genet. 2019 Sep;64(9):867-873. doi: 10.1038/s10038-019-0638-9. Epub 2019 Jul 8.
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Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.额鼻发育异常:对分子与发育病因学的理解
Mol Syndromol. 2016 Nov;7(6):312-321. doi: 10.1159/000450533. Epub 2016 Oct 29.
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Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.组织边界形成的标志物 Ephrin-B1(EFNB1)的突变会导致颅额鼻综合征。
Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. doi: 10.1073/pnas.0402819101. Epub 2004 May 27.
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Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.埃菲林-B1基因的突变会导致颅额鼻综合征。
Am J Hum Genet. 2004 Jun;74(6):1209-15. doi: 10.1086/421532. Epub 2004 Apr 29.