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- W2092077096 abstract "CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because the underlying X-linked gene exerts a lethal effect on male embryos. In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY. This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait." @default.
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- W2092077096 date "1996-03-15" @default.
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- W2092077096 title "CHILD syndrome in a boy" @default.
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- W2092077096 doi "https://doi.org/10.1002/(sici)1096-8628(19960315)62:2<192::aid-ajmg14>3.0.co;2-j" @default.
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