A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W; Zweier C; Froster UG; Strenge S; Kujat A; Syrbe S; Rauch A; Schuster V

首页> 外文期刊>American journal of medical genetics, Part A >A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

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A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

机译：ZFHX1B基因的错义突变与非典型的Mowat-Wilson综合征表型有关。

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Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical facial dysmorphism. Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital anomalies. Mutations leading to haploinsufficiency of the ZFHX1B gene have been described as the underlying cause of this condition. We report on the clinical findings in a 2(1/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene.

机译：Mowat-Wilson综合征（MWS）是一种罕见的智力低下-多发性先天性异常综合征，伴有典型的面部畸形。患者可表现出各种其他异常，例如身材矮小，小头畸形，巨结肠疾病，脑畸形，癫痫发作，先天性心脏缺陷和泌尿生殖道异常。导致ZFHX1B基因单倍缺乏的突变已被描述为这种病的根本原因。我们报告了一个2（1/2）岁男孩的临床发现，除了异常的异常和ZFHX1B基因的新型错义突变外，MWS光谱还具有某些方面。

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来源
《American journal of medical genetics, Part A》 |2006年第11期|共5页
作者
Heinritz W; Zweier C; Froster UG; Strenge S; Kujat A; Syrbe S; Rauch A; Schuster V;
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正文语种 eng
中图分类医学遗传学;
关键词
Abnormalities; Multiple; Hirschsprung Disease; Homeodomain Proteins; Mental Retardation; 畸形; 多发性; Hirschsprung病; 同源域蛋白质类; 精神发育迟滞; 小头畸形; 突变; 误义;

机译：Abnormalities;Multiple;Hirschsprung Disease;Homeodomain Proteins;Mental Retardation;畸形;多发性;Hirschsprung病;同源域蛋白质类;精神发育迟滞;小头畸形;突变;误义;

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1. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. [J] . Heinritz W, Zweier C, Froster UG, American journal of medical genetics, Part A . 2006,第11期

机译：ZFHX1B基因的错义突变与非典型的Mowat-Wilson综合征表型有关。
2. Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome. [J] . TEGUH HARYO SASONGKO, AHMAD HAMIM SADEWA, GUNADI, Kobe journal of medical sciences . 2007,第4期

机译：ZFHX1B基因在两个日本女孩与Mowat-Wilson综合征中的无意义突变。
3. Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B). Report of Three Italian Cases with Hypospadias and Review. [J] . Garavelli L, Virdis R, Pastore G, Hormone research . 2005,第4期

机译：Mowat-Wilson综合征的泌尿生殖系统异常与锌指荷马框1B基因（ZFHX1B）的缺失/突变。关于三例意大利血吸虫病的报告并进行回顾。
4. Functional consequences of missense mutation in the GJB2 gene associated with non-synclromic hearing loss [C] . Lee Kyu Yup, Choi Soo-Young, Lin Xi, Asia Pacific Symposium on Cochlear Implant and Related SciencesAsia Pacific Symposium on Cochlear Implant and Related Sciences . 2009

机译：与非辛瘤性听力损失相关的GJB2基因畸形突变的功能后果
5. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM). [D] . Carter, Hannah. 2012

机译：具有肿瘤特异性高通量体细胞突变（CHASM）的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
6. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1 [O] . N Ishihara, K Yamada, Y Yamada, 2004

机译：在2q22–q24.1时与ZFHX1B突变和缺失相关的Mowat-Wilson综合征的临床和分子分析
7. Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome [O] . TEGUH HARYO SASONGKO, AHMAD HAMIM SADEWA, GUNADI, 2007

机译：ZFHX1B基因的废话突变在两个日本女孩的Mowat-Wilson综合征

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

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