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Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene / 中华医学遗传学杂志
Xiaoyan WANG; Rongrong XIE; Haiying WU; Xiuli CHEN; Fengyun WANG; Ting CHEN; Hui SUN; Linqi CHEN.
Chinese Journal of Medical Genetics ; (6): 942-946, 2021.
Article in Zh | WPRIM | ID: wpr-921972
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.@*METHODS@#A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.@*RESULTS@#The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).@*CONCLUSION@#Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.
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Full text: 1 Index: WPRIM Main subject: Pedigree / Body Height / China / Genetic Testing / Retrospective Studies / Aggrecans Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans Country/Region as subject: Asia Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article
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Full text: 1 Index: WPRIM Main subject: Pedigree / Body Height / China / Genetic Testing / Retrospective Studies / Aggrecans Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans Country/Region as subject: Asia Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article