致死性侏儒症 - Suppr

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超能文献

[Thanatophoric dwarfism].

作者信息

Maroteaux P, Lamy M, Robert J M

出版信息

Presse Med (1893). 1967 Nov 22;75(49):2519-24.

PMID:6073727

Abstract

摘要

相似文献

[Thanatophoric dwarfism].致死性侏儒症

Presse Med (1893). 1967 Nov 22;75(49):2519-24.

Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.致死性侏儒症。一种在新生儿中易与软骨发育不全相混淆的病症，并对软骨发育不全和纯合子软骨发育不全作简要评论。

Radiology. 1969 Feb;92(2):285-94 passim. doi: 10.1148/92.2.285.

Achondroplasia and thanatophoric dwarfism in the newborn.新生儿的软骨发育不全和致死性侏儒症。

Clin Genet. 1971;2(2):61-72. doi: 10.1111/j.1399-0004.1971.tb00257.x.

[Achondrogenesis and thanatophoric nanism. Clinical, radiological and genetic aspects].[软骨发育不全和致死性侏儒症。临床、放射学和遗传学方面]

Minerva Pediatr. 1976 Sep 22;28(29):1785-94.

Fatal neonatal dwarfism.致命性新生儿侏儒症

J Can Assoc Radiol. 1972 Mar;23(1):45-61.

[Fatal nanism: 3 different entities].[致死性侏儒症：三种不同类型]

An Esp Pediatr. 1991 Apr;34(4):305-9.

Neonatal death dwarfism. (A further report).新生儿死亡性侏儒症。（进一步报告）

Rofo. 1978 Nov;129(5):626-33. doi: 10.1055/s-0029-1231172.

Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.致死性短肢侏儒症：软骨发育不全和致死性侏儒症。

Am J Roentgenol Radium Ther Nucl Med. 1971 May;112(1):185-97. doi: 10.2214/ajr.112.1.185.

Achondroplasia in man and animals.人类和动物中的软骨发育不全。

Clin Orthop Relat Res. 1964 Mar-Apr;33:91-103.

[Homozygous form of achondroplasia and thanatophoric dwarfism--bone dysplasias to be diagnosed before birth].[软骨发育不全和致死性侏儒症的纯合子形式——产前需诊断的骨发育异常]

Geburtshilfe Frauenheilkd. 1972 Mar;32(3):184-91.

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A primer on skeletal dysplasias.骨骼发育不良概述。

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Achondroplasia: a comprehensive clinical review.软骨发育不全症：全面的临床综述。

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Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study.致死性发育不良：一例尸检报告及死后计算机断层扫描研究补充

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A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.孕早期1型致死性骨发育不全合并胎儿水肿1例。

Case Rep Obstet Gynecol. 2016;2016:1821230. doi: 10.1155/2016/1821230. Epub 2016 Feb 23.

Thanatophoric Dysplasia: A Case Report.致死性骨发育不全：一例报告。

J Clin Diagn Res. 2015 Nov;9(11):QD01-3. doi: 10.7860/JCDR/2015/13201.6702. Epub 2015 Nov 1.

A case of thanatophoric dysplasia type 2: a novel mutation.1型致死性骨发育不全一例：一种新的突变

J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):73-6. doi: 10.4274/jcrpe.1703.

Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review.孕中期早期经基因分析确诊的双绒毛膜双胎致死性骨发育不全：一例报告及文献复习

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Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.1型致死性骨发育不全（TD）患者染色体异常的诊断：首份描述细胞遗传学结果与TD之间重要关联的报告。

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Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.十六年过去了：当前对骨骼发育不良中成纤维细胞生长因子受体 3（FGFR3）信号的理解。

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