The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism-Reference-Cited by-同舟云学术

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The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism

Published:2022-12-31 Issue:2 Volume:19 Page:105-110
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Cho Jin Young¹²^ORCID,Lee Tae Kwan²^ORCID,Kim Yoo Mi¹³^ORCID,Lim Han Hyuk¹²^ORCID

Affiliation:

1. Department of Pediatrics, Chungnam National University College of Medicine, Daejeon, Korea

2. Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea

3. Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2022/019/jgm-19-2-105.pdf

Reference25 articles.

1. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

2. Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

3. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

4. Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients

5. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Cited by 1 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. Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report;The Application of Clinical Genetics;2024-07

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