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• W3027734452 abstract "Abstract We report on a 26‐year‐old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. He likely had a previously undescribed syndrome of unknown etiology." @default.
• W3027734452 created "2020-05-29" @default.
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• W3027734452 date "2020-05-19" @default.
• W3027734452 modified "2023-09-26" @default.
• W3027734452 title "An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology" @default.
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• W3027734452 doi "https://doi.org/10.1002/ajmg.a.61619" @default.
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