Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature-Reference-Cited by-同舟云学术

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Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Published:2018-12-31 Issue:2 Volume:15 Page:102-106
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Kim Yoo-Mi¹^ORCID,Cheon Chong Kun²,Lim Han Hyuk¹,Yoo Han-Wook³

Affiliation:

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

2. Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, Korea

3. Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2018/015/JGM015-02-09.pdf

Reference16 articles.

1. The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

2. Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations

3. A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

4. Identification of 15 loci influencing height in a Korean population

5. Novel pathogenic ACAN variants in non-syndromic short stature patients

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. Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review;Molecular Genetics & Genomic Medicine;2024-04

2. Mutational analysis of consanguineous families and their targeted therapy against dwarfism;Journal of Biomolecular Structure and Dynamics;2024-02-07

3. Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature;Annals of Pediatric Endocrinology & Metabolism;2020-12-31

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