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PubMed · 4039891

X-linked midline defects.

H V Toriello·J V Higgins
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Abstract

Opitz and Gilbert [Am J Med Genet 12:443-455, 1982] have postulated that the midline may be a kind of developmental field. Although developmental field defects (primary malformations) usually occur sporadically, in some instances they can be caused by a single gene mutation. We report on a family in which the occurrence of midline defects was consistent with X-linked inheritance. Anomalies present in the family include hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias.

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Abnormalities, MultipleAnencephalyCleft LipFemaleGenetic LinkageHeart Defects, CongenitalHumansHydrocephalusHypospadiasInfant, NewbornKidneyMalePedigreeX ChromosomeCase ReportsJournal Article

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H V Toriello, J V Higgins. 1985. X-linked midline defects.. https://doi.org/10.1002/ajmg.1320210121

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