Disproportionate stature but normal height in hypochondroplasia.

作者信息

Riepe Felix G, Krone Nils, Sippell Wolfgang G

机构信息

Division of Paediatric Endocrinology, Department of Paediatrics, Christian-Albrechts-University of Kiel, Schwanenweg 20, 24105, Kiel, Germany.

出版信息

Eur J Pediatr. 2005 Jun;164(6):397-9. doi: 10.1007/s00431-005-1640-0. Epub 2005 Mar 15.

DOI:10.1007/s00431-005-1640-0

PMID:15909185

Abstract

摘要

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Disproportionate stature but normal height in hypochondroplasia.

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本文引用的文献

Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.低软骨发育不全与身高正常：另一个成纤维细胞生长因子受体3基因存在Asn540Ser突变的家族。

Am J Med Genet A. 2003 May 15;119A(1):81-4. doi: 10.1002/ajmg.a.10238.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.FGFR3基因第650位密码子赖氨酸的不同错义突变可调节受体激酶激活及骨骼发育异常表型的严重程度。

Am J Hum Genet. 2000 Dec;67(6):1411-21. doi: 10.1086/316892. Epub 2000 Oct 27.

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.由于成纤维细胞生长因子受体3基因中一种新的Asn540Ser突变导致的软骨发育不全家族的临床和影像学特征。

J Med Genet. 2000 Mar;37(3):220-4. doi: 10.1136/jmg.37.3.220.

Hum Mutat. 1998;11(4):333. doi: 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G.

Genotype and phenotype in hypochondroplasia.软骨发育不全的基因型与表型。

J Pediatr. 1998 Jul;133(1):99-102. doi: 10.1016/s0022-3476(98)70186-6.

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.FGFR3跨膜结构域的突变导致最常见的侏儒症遗传形式——软骨发育不全。

Cell. 1994 Jul 29;78(2):335-42. doi: 10.1016/0092-8674(94)90302-6.

[Longitudinal data of physical growth of healthy children. II. Height, weight, skinfold thickness of children aged 1.5--16 years (author's transl)].

Klin Padiatr. 1980 Jan;192(1):25-33. doi: 10.1055/s-2008-1033855.

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