TY - JOUR
T1 - Achondroplasia, hypochondroplasia and thanatophoric dysplasia
T2 - Clinically related skeletal dysplasias that are also related at the molecular level
AU - Cohen, M. Michael
PY - 1998/12
Y1 - 1998/12
N2 - 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.
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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U2 - 10.1016/S0901-5027(98)80036-2
DO - 10.1016/S0901-5027(98)80036-2
M3 - Article
C2 - 9869286
AN - SCOPUS:0032253399
SN - 0901-5027
VL - 27
SP - 451
EP - 455
JO - International Journal of Oral and Maxillofacial Surgery
JF - International Journal of Oral and Maxillofacial Surgery
IS - 6
ER -