{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:52:46Z","timestamp":1791064366026,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T00:00:00Z","timestamp":1315526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    X\u2010linked VACTERL\u2010hydrocephalus syndrome (X\u2010linked VACTERL\u2010H) is a rare disorder caused by mutations in the gene\n                    <jats:italic>FANCB<\/jats:italic>\n                    which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross\u2010linking agents. Only five\n                    <jats:italic>FANCB<\/jats:italic>\n                    mutations found in six affected males, including an affected uncle and nephew, have been reported. We have identified\n                    <jats:italic>FANCB<\/jats:italic>\n                    mutations in a further four affected families. The VACTERL\u2010H phenotype segregates as an X\u2010linked recessive trait in three of these. Each mutation is predicted to truncate the\n                    <jats:italic>FANCB<\/jats:italic>\n                    open reading frame and results in highly skewed X\u2010inactivation in unaffected carrier females. Phenotypic data were available on six affected males. Comparison of the clinical findings in our patients with published clinical data (total 12 patients) shows that ventriculomegaly, bilateral absent thumbs and radii, vertebral defects, renal agenesis, and growth retardation are the major phenotypic signs in affected males. Less frequent are brain, pituitary, ear and eye malformations, gastrointestinal atresias (esophageal, duodenal and anal), tracheoesophageal fistula, lung segmentation defects, and small genitalia. Three of six of our patients survived the perinatal period. One boy lived up to 2 years 10 months but developed aplastic anemia and died of renal failure. These data show that loss\u2010of\u2010function\n                    <jats:italic>FANCB<\/jats:italic>\n                    mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. \u00a9 2011 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.33913","type":"journal-article","created":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T22:47:39Z","timestamp":1315608459000},"page":"2370-2380","source":"Crossref","is-referenced-by-count":49,"title":["X\u2010linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by\n                    <i>FANCB<\/i>\n                    mutations"],"prefix":"10.1002","volume":"155","author":[{"given":"Joanna","family":"McCauley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navta","family":"Masand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"McGowan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulekha","family":"Rajagopalan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques 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