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- W2165153705 abstract "A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia." @default.
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- W2165153705 date "1992-11-01" @default.
- W2165153705 modified "2023-09-23" @default.
- W2165153705 title "Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita." @default.
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- W2165153705 doi "https://doi.org/10.1136/jmg.29.11.831" @default.
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