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-Reference-Cited by-同舟云学术

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

Published:2020-12-31 Issue:4 Volume:25 Page:272-276
ISSN:2287-1012
Container-title:Annals of Pediatric Endocrinology & Metabolism
language:en
Short-container-title:Ann Pediatr Endocrinol Metab

Author:

Kim Tae Youp,Jang Kyung Mi^ORCID,Keum Chang Won,Oh Seung Hwan,Chung Woo Yeong^ORCID

Publisher

Korean Society of Pediatric Endocrinology

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://e-apem.org/upload/pdf/apem-1938198-099.pdf

Reference18 articles.

1. Hormonal Regulation of Growth Plate Cartilage

2. Short and tall stature: a new paradigm emerges

3. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

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

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

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

2. Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia;Neurospine;2024-03-31

3. Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age;Frontiers in Genetics;2023-03-21

4. A Case of Short Stature Caused by a Mutation in the <b><i>ACAN</i></b> Gene;Molecular Syndromology;2022-10-21

5. Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature;Frontiers in Genetics;2021-08-12