CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney-Reference-Cited by-同舟云学术

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CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

Published:2020-04-23 Issue:1 Volume:20 Page:479-485
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

Gug Cristina¹,Gorduza Eusebiu²,Lăcătuşu Adrian³,Vaida Monica⁴,Bîrsăşteanu Florin⁵,Puiu Maria¹,Stoicănescu Dorina¹

Affiliation:

1. Department of Microscopic Morphology, Victor Babeş University of Medicine and Pharmacy, 300041 Timisoara, Romania

2. Prenatal Diagnosis Department, Cuza Voda Obstetrics‑Gynecology Clinical Hospital, 700038 Iasi, Romania

3. Department of Pediatrics, Victor Babeş University of Medicine and Pharmacy, 300041 Timisoara, Romania

4. Department of Anatomy and Embryology, Victor Babeş University of Medicine and Pharmacy, 300041 Timisoara, Romania

5. Department of Radiology and Medical Imaging, Victor Babeş University of Medicine and Pharmacy, 300041 Timisoara, Romania

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism;Heliyon;2024-01

2. Síndrome CHARGE en recién nacido con rearreglo de los cromosomas 15 y Y. Reporte de caso;Iatreia;2024

3. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES);Archives of Gynecology and Obstetrics;2023-08-03

4. A novel CHD7 variant in a chinese family with CHARGE syndrome;Genes & Genomics;2023-06-05

5. Analysis of the CHD7 gene mutations in patients of congenital heart disease with extracardiac malformations;Translational Pediatrics;2023-06

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