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• W2048798110 abstract "Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene ZFHX1B (previously SIP1) [OMIM 605802] have recently been found to cause MWS. There have previously been no reports of a sibling recurrence of this syndrome. A brother and sister are described with clinical features of MWS, where both have the same truncating mutation in exon 8 of ZFHX1B. As their parents are phenotypically normal and do not have the mutation in lymphocyte-derived DNA, the most likely explanation is germ-line mosaicism." @default.
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• W2048798110 date "2005-01-01" @default.
• W2048798110 modified "2023-09-30" @default.
• W2048798110 title "Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation" @default.
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• W2048798110 doi "https://doi.org/10.1002/ajmg.a.30896" @default.
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