Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations an...
المؤلفون الرئيسيون: | van den Elzen, M, Twigg, SR, Goos, J, Hoogeboom, A, van den Ouweland, A, Wilkie, A, Mathijssen, I |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
2014
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مواد مشابهة
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
حسب: Van Den Elzen, M, وآخرون
منشور في: (2014) -
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
حسب: Vasudevan, P, وآخرون
منشور في: (2006) -
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
حسب: Twigg, SR, وآخرون
منشور في: (2006) -
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
حسب: Twigg, SR, وآخرون
منشور في: (2013) -
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
حسب: Twigg, SR, وآخرون
منشور في: (2004)