Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family-Reference-Cited by-同舟云学术

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Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

Published:2012 Issue:1 Volume:138 Page:5-10
ISSN:1424-859X
Container-title:Cytogenetic and Genome Research
language:en
Short-container-title:Cytogenet Genome Res

Author:

Belangero S.I.,Pacanaro A.N.X.,Bellucco F.T.,Christofolini D.M.,Kulikowski L.D.,Guilherme R.S.,Bortolai A.,Dutra A.R.N.,Piazzon F.B.,Cernach M.C.,Melaragno M.I.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference20 articles.

1. Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy

2. Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation

3. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)

4. Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2

Cited by 3 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. Cecr2 mutant mice as a model for human cat eye syndrome;Scientific Reports;2021-02-04

2. Congenital diaphragmatic hernia in a case of Cat eye syndrome;Clinical Case Reports;2018-07-23

3. Coloboma and anorectal malformations: a rare association with important clinical implications;Pediatric Surgery International;2013-08-02

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