A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome-Reference-Cited by-同舟云学术

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A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome

Published:2012 Issue:10 Volume:27 Page:1273
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Cho Eun-Hae¹,Kim Sook-Young²,Kim Jin-Kyung³

Affiliation:

1. Greencross Reference Laboratory, Catholic University of Daegu School of Medicine, Daegu, Korea.

2. Department of Ophthalmology, Catholic University of Daegu School of Medicine, Daegu, Korea.

3. Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

https://synapse.koreamed.org/pdf/10.3346/jkms.2012.27.10.1273

Cited by 12 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. Albinism, Ocular, Type 1 (OA1);Genetic Syndromes;2024

2. STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review;Genes;2023-10-10

3. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism;The Journal of Clinical Endocrinology & Metabolism;2022-05-16

4. Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome;Molecular Cytogenetics;2022-03-31

5. Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations;Journal of Medicine and Life;2020-10

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