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Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.

作者信息

Flanagan S F, Munns C F J, Hayes M, Williams B, Berry M, Vickers D, Rao E, Rappold G A, Batch J A, Hyland V J, Glass I A

出版信息

J Med Genet. 2002 Oct;39(10):758-63. doi: 10.1136/jmg.39.10.758.

DOI:10.1136/jmg.39.10.758
PMID:12362035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734979/
Abstract
摘要

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Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.儿童马德隆畸形中含矮小同源框基因（SHOX）的突变患病率。
J Med Genet. 2002 Oct;39(10):758-63. doi: 10.1136/jmg.39.10.758.
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The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).SHOX基因与身材矮小。SHOX单倍剂量不足所致身材矮小的诊断与治疗圆桌会议：遗传学、放射学和人体测量学如何在诊断过程中帮助儿科医生 帕多瓦（2011年4月20日）
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Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.一名特发性身材矮小患者的SHOX基因第5外显子存在独特缺失。
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Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.在中国一个患有孤立性马德隆畸形的家族中鉴定出一种新的SHOX突变。
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Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.同源盒基因SHOX（矮小同源盒基因）的缺失是导致身材矮小儿童生长发育迟缓的一个重要原因。
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High incidence of SHOX anomalies in individuals with short stature.身材矮小个体中SHOX异常的高发生率。
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SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.SHOX：含假常染色体同源框基因，与身材矮小和软骨发育不全相关。
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SHOX mutations.短身材同源框基因（SHOX）突变
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引用本文的文献

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Screening of gene sequence variants in Saudi Arabian children with idiopathic short stature.沙特阿拉伯特发性身材矮小儿童的基因序列变异筛查。
Korean J Pediatr. 2017 Oct;60(10):327-332. doi: 10.3345/kjp.2017.60.10.327. Epub 2017 Oct 20.
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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.鉴定一种与显著家族内表型变异性相关的新型15.5 kb SHOX缺失及其分子起源分析。
J Genet. 2016 Dec;95(4):839-845. doi: 10.1007/s12041-016-0698-y.
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A Track Record on SHOX: From Basic Research to Complex Models and Therapy.SHOX的过往记录：从基础研究到复杂模型与治疗
Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29.
4
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.SHOX基因单倍剂量不足作为综合征性和非综合征性身材矮小的一个病因
Mol Syndromol. 2016 Apr;7(1):3-11. doi: 10.1159/000444596. Epub 2016 Mar 15.
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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.SHOX上游保守非编码元件的分析及SHOX顺式调控景观的功能表征。
Sci Rep. 2015 Dec 3;5:17667. doi: 10.1038/srep17667.
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Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.在中国一个患有孤立性马德隆畸形的家族中鉴定出一种新的SHOX突变。
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Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.对特发性矮小症（ISS）患者常见的SHOX基因序列变异和~4.9 kb的PAR1缺失进行分析。
J Genet. 2014 Aug;93(2):505-8. doi: 10.1007/s12041-014-0375-y.
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SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.哥伦比亚特发性身材矮小患者的 SHOX 基因和保守非编码元件缺失/重复。
Mol Genet Genomic Med. 2014 Mar;2(2):95-102. doi: 10.1002/mgg3.39. Epub 2013 Oct 14.
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Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report.因短身材同源框基因（SHOX）缺失在X和Y染色体之间发生交换导致的Leri-Weill综合征罕见遗传：一例报告
Int J Pediatr Endocrinol. 2013;2013(1):11. doi: 10.1186/1687-9856-2013-11. Epub 2013 Jun 28.
10
A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.SHOX基因中的一种新型内含子突变通过破坏剪接受体位点导致身材矮小：在HEK-293T细胞中通过小基因表达直接证明异常剪接
J Pediatr Endocrinol Metab. 2012;25(9-10):889-95. doi: 10.1515/jpem-2012-0173.