Article
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
American journal of medical genetics. Part A - 1 Oct 2011
McCauley Joanna, Masand Navta, McGowan Ruth, Rajagopalan Sulekha, Hunter Alasdair, Michaud Jacques L, Gibson Kate, Robertson Jeremy, Vaz Fiona, Abbs Stephen, Holden Simon T
Abstract excerpt
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross-linking agents. Only five FANCB mutations found in six affected males, including an affected uncle and nephew, have been reported. We have identified...
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