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• W2000322771 abstract "Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome." @default.
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• W2000322771 date "2012-05-31" @default.
• W2000322771 modified "2023-10-18" @default.
• W2000322771 title "A novel<i>KIF11</i>mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family" @default.
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• W2000322771 doi "https://doi.org/10.1002/ajmg.a.35371" @default.
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