成骨不全伴成纤维细胞生长因子受体-3（FGFR-3）基因罕见突变（密码子375处甘氨酸到半胱氨酸的转变）的非典型放射学表现。 - Suppr

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超能文献

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375).

作者信息

Nishimura G, Fukushima Y, Ohashi H, Ikegawa S

出版信息

Am J Med Genet. 1995 Nov 20;59(3):393-5. doi: 10.1002/ajmg.1320590325.

DOI:10.1002/ajmg.1320590325

PMID:8599370

Abstract

摘要

相似文献

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375).成骨不全伴成纤维细胞生长因子受体-3（FGFR-3）基因罕见突变（密码子375处甘氨酸到半胱氨酸的转变）的非典型放射学表现。

Am J Med Genet. 1995 Nov 20;59(3):393-5. doi: 10.1002/ajmg.1320590325.

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.成纤维细胞生长因子受体3（FGFR 3）基因的常见突变导致软骨发育不全、软骨发育低下和致死性侏儒症。

Am J Med Genet. 1996 May 3;63(1):148-54. doi: 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N.

An uncommon G375C substitution in a newborn with achondroplasia.

Genet Couns. 2000;11(2):169-74.

Atypical achondroplasia.

Am J Med Genet. 1997 May 16;70(2):202; author reply 203-5. doi: 10.1002/(sici)1096-8628(19970516)70:2<202::aid-ajmg18>3.0.co;2-n.

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].[一个软骨发育不全家族中纤维母细胞生长因子受体3基因的突变分析]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):373-5.

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.日本患者中1例家族性和6例散发性软骨发育不全病例的成纤维细胞生长因子受体-3基因突变

Hum Genet. 1995 Sep;96(3):309-11. doi: 10.1007/BF00210413.

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.两名具有软骨发育不全表型的患者中出现Ⅰ型致死性骨发育不全（R248C）和软骨发育低下（N540K）突变。

Am J Med Genet. 2001 Dec 15;104(4):277-81. doi: 10.1002/ajmg.10092.

Clinical and molecular characteristics of Thai patients with achondroplasia.泰国软骨发育不全患者的临床和分子特征

Southeast Asian J Trop Med Public Health. 2001 Jun;32(2):429-33.

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.由软骨发育不全中发现的跨膜结构域点突变导致的成纤维细胞生长因子受体3的组成性激活。

EMBO J. 1996 Feb 1;15(3):520-7.

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.在土耳其，软骨发育不全由FGFR3基因反复出现的G380R突变所定义。

Turk J Pediatr. 2003 Apr-Jun;45(2):99-101.

引用本文的文献

Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.携带 FGFR3 杂合变异的胎儿在妊娠中期出现严重表型：病例报告。

BMC Med Genomics. 2023 Apr 19;16(1):80. doi: 10.1186/s12920-023-01517-8.

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.典型的软骨发育不全症继发于 FGFR3 的独特插入变异，体外证明其对 FGFR3 功能的影响。

Am J Med Genet A. 2021 Mar;185(3):798-805. doi: 10.1002/ajmg.a.62043. Epub 2020 Dec 2.

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.ACVR1基因617G>A突变在三名日本进行性骨化性纤维发育不良患者中也反复出现。

J Hum Genet. 2007;52(5):473-475. doi: 10.1007/s10038-007-0128-3. Epub 2007 Mar 10.

Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.骨骼发育异常的遗传学分析：后基因组序列时代的最新进展与展望

J Hum Genet. 2006;51(7):581-6. doi: 10.1007/s10038-006-0401-x. Epub 2006 May 3.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.一种伴有发育迟缓及黑棘皮病的新型骨骼发育异常是由成纤维细胞生长因子受体3基因中的Lys650Met突变引起的。

Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275.

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