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Last Updated: 10/31/2025
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Found 58 publications
The Reassuring and Misleading Myth of Familial Short Stature.
Journal: JAMA pediatrics
Published: July 07, 2025
Two cases of autosomal dominant familial short stature associated with COL11A2 gene variant and the therapeutic response to recombinant human growth hormone.
Journal: Translational pediatrics
Published: December 04, 2024
Monogenic causes of familial short stature.
Journal: Frontiers in endocrinology
Published: October 04, 2024
A rare ACAN non-canonical splicing-site intron variant results in familial short stature.
Journal: Gene
Published: December 20, 2023
Analysis of children with familial short stature: who should be indicated for genetic testing?
Journal: Endocrine connections
Published: June 13, 2023
Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 27, 2023
Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants.
Journal: Frontiers in pediatrics
Published: November 20, 2021
Response to Letter to the Editor from Youn Hee Jee: "Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies".
Journal: The Journal of clinical endocrinology and metabolism
Published: September 02, 2021
NPR2 gene variants in familial short stature: a single-center study.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 11, 2021
Definition and prevalence of familial short stature.
Journal: Italian journal of pediatrics
Published: December 12, 2020
Genetic Architecture Associated With Familial Short Stature.
Journal: The Journal of clinical endocrinology and metabolism
Published: October 09, 2019
Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning.
Journal: Journal of biomedical science
Published: May 27, 2019
Last Updated: 10/31/2025