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• W2022089641 abstract "This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis." @default.
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• W2022089641 date "1998-12-01" @default.
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• W2022089641 title "Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level" @default.
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• W2022089641 doi "https://doi.org/10.1016/s0901-5027(98)80036-2" @default.
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