First report ofde novo12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa

Khazanchi Rohan; Yetman Anji T.; Sanmann Jennifer N.; Starr Lois J.

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First report ofde novo12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa

机译：Novo12Q14.2-Q23.3复制的第一个报告

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来源
《Clinical dysmorphology 》 |2020年第3期| 共5页
作者
Khazanchi Rohan; Yetman Anji T.; Sanmann Jennifer N.; Starr Lois J.;
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作者单位

Univ Nebraska Med Ctr Coll Med Omaha NE USA;

Childrens Hosp &

Med Ctr Dept Pediat Div Cardiol Omaha NE USA;

Univ Nebraska Med Ctr Munroe Meyer Inst Genet &

Rehabil Omaha NE USA;

Univ Nebraska Med Ctr Munroe Meyer Inst Genet &

Rehabil Omaha NE USA;

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原文格式 PDF
正文语种 eng
中图分类妇产科学 ;
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1. Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report [J] . Mohammadbagher Rahmati, Maryam Yazdanparast, Keramatallah Jahanshahi, Electronic Physician . 2015 ,第6期

机译：先天性角质层松弛症2型与复发性吸入性肺炎和生长延迟相关：病例报告
2. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects [J] . Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto Congenital anomalies . 2018 ,第1期

机译：在具有严重发育延迟的患者中鉴定的10Q21.3QQ22.2微缺失性和包括先天性心脏缺陷的多个先天性异常
3. Case Report- Infantile congenital cutis laxa with multiple hernias and ventricular septal defect [J] . Kothari ParasR, Gupta Arun, Shankar Gowri, Indian Journal of Surgery . 2005 ,第1期

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4. Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report [O] . Mohammadbagher Rahmati, Maryam Yazdanparast, Keramatallah Jahanshahi, 2015

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5. Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review [O] . Steiner, Carlos Eduardo, Cintra, Maria Letícia, Marques-de-Faria, Antonia Paula 2015

机译：角质层松弛症，具有生长和发育延迟，皮肤皱纹综合征和成年女性生殖不良症：两名无关患者的报告和文献复习

First report ofde novo12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa

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