Achondroplasia, hypochondroplasia and thanatophoric dysplasia: Clinically related skeletal dysplasias that are also related at the molecular level

M. Michael Cohen

doi:10.1016/S0901-5027(98)80036-2

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: Clinically related skeletal dysplasias that are also related at the molecular level

M. Michael Cohen

Medicine

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49 Citations (Scopus)

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.

Original language	English
Pages (from-to)	451-455
Number of pages	5
Journal	International Journal of Oral and Maxillofacial Surgery
Volume	27
Issue number	6
DOIs	https://doi.org/10.1016/S0901-5027(98)80036-2
Publication status	Published - Dec 1998

ASJC Scopus Subject Areas

Surgery
Oral Surgery
Otorhinolaryngology

PubMed: MeSH publication types

Journal Article
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10.1016/S0901-5027(98)80036-2

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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.",

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AB - 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.

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Achondroplasia, hypochondroplasia and thanatophoric dysplasia: Clinically related skeletal dysplasias that are also related at the molecular level

Abstract

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