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• W2123084525 abstract "Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and prevention of holoprosencephaly." @default.
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• W2123084525 date "1990-10-01" @default.
• W2123084525 modified "2023-10-17" @default.
• W2123084525 title "Holoprosencephaly: Examples of clinical variability and etiologic heterogeneity" @default.
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• W2123084525 doi "https://doi.org/10.1002/ajmg.1320370216" @default.
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