Helga V. Toriello, Stephen T. Warren, Janice A. Lindstrom, John M. Opitz
Abstract
Causal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X-linked inheritance.
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Causal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X-linked inheritance.
Key concepts: Spina bifida, Anencephaly, Medicine, Spinal dysraphism, X-linked recessive inheritance, Genetics, Biology, Pediatrics