软骨发育不全、低软骨发育不全和致死性骨发育不良：临床上相关的骨骼发育不良，在分子水平上也存在关联。
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.
作者信息
Cohen M M
机构信息
Department of Oral & Maxillofacial Sciences, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
出版信息
Int J Oral Maxillofac Surg. 1998 Dec;27(6):451-5. doi: 10.1016/s0901-5027(98)80036-2.
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.
这是关于多种综合征和疾病现代遗传学概念的三篇文章中的第二篇。文中讨论了三种伴有颅骨其他异常的短肢骨骼发育不良疾病。所有这些疾病均由成纤维细胞生长因子受体3（FGFR3）的突变引起。本文提出了一种发病机制假说，以解释身材矮小、面中部发育不全和颅缝早闭严重程度的差异。
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