Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

Baynam G; Goldblatt J; Walpole I

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Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

机译：具有Cornelia de Lange综合征和先天性diaphragm疝的特征的8p23.1缺失以及8p23.1至8pter缺失的综述Cornelia de Lange综合征的另一个病源。

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Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS-Tankyrase 1.

机译：Cornelia de Lange综合征（CdLS）的特征是面部变形。多毛症内部器官异常，包括diaphragm肌疝和四肢缺损。虽然已经确定了三个基因的致病突变，但许多病例的病因仍然未知。我们报告了一个具有CdLS和先天性diaphragm疝的特征的8p23.1缺失的儿童。我们审查了涉及8p23.1的细胞遗传异常的病例，讨论了8p23.1缺失与CdLS之间的潜在关系，并提出了CdLS-Tankyrase 1的新候选基因。

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《American journal of medical genetics, Part A》 |2008年第12期|共6页
作者
Baynam G; Goldblatt J; Walpole I;
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正文语种 eng
中图分类医学遗传学;
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1. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. [J] . Baynam G, Goldblatt J, Walpole I American journal of medical genetics, Part A . 2008,第12期

机译：具有Cornelia de Lange综合征和先天性diaphragm疝的特征的8p23.1缺失以及8p23.1至8pter缺失的综述Cornelia de Lange综合征的另一个病源。
2. Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome [J] . Cao R., Chen S., Fang S., Cellular Physiology and Biochemistry . 2015,第1期

机译：进行9q31.1-q32缺失的患者与Cornelia de Lange综合征具有共同特征
3. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome [J] . Boyle Martine Isabel, Jespersgaard Cathrine, Nazaryan Lusine, Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2015,第1期

机译：患有智障和儿童面部特征类似Cornelia de Lange综合征的患者的11q12.3-11q13.1缺失
4. 3D foetal skull in Cornelia de Lange syndrome [C] . Olszewski R, Cordier Y, Fourneau C, European Association of Cranio-Maxillo-Facial Surgery . 2010

机译：3d Fottery头骨在Cornelia de Lange综合症
5. Cornelia de Lange Syndrome and the Developmental Origins of Heart Defects. [D] . Santos, Rosaysela. 2012

机译：Cornelia de Lange综合征和心脏缺陷的发展起源。
6. An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4 [O] . Nikoletta Selenti, Maria Tzetis, Maria Braoudaki, 2015

机译：与8型Langer-Giedion综合征/ Trichorhinophalangealeal综合征（TRPS）和Cornelia de Lange综合征相关的8q23.1-q24.12间质缺失
7. Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome [O] . Ruixue Cao, Tian Pu, Shaohai Fang, 2015

机译：携带9q31.1-q32缺失的患者与Cornelia de Lange综合征共享共同特征

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

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