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- W1570465969 abstract "We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised. © 2003 Wiley-Liss, Inc." @default.
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- W1570465969 date "2002-12-11" @default.
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- W1570465969 title "Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation" @default.
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- W1570465969 doi "https://doi.org/10.1002/ajmg.a.10023" @default.
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