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Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.
Eur J Hum Genet
June 2024
Shriners Hospital for Children, Montreal, QC, Canada.
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis (LWD) to SHOX-deficient short stature. SHOX nullizygosity leads to Langer mesomelic dysplasia. Pathogenic variants can include whole or partial gene deletions or duplications, point mutations within the coding sequence, and deletions of upstream and downstream regulatory elements.
View Article and Find Full Text PDFEffect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.
Front Genet
May 2024
Department of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Objective: To determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.
Methods: WES was applied to a couple seeking reproductive advice, the female with short stature and the male with congenital cataracts.
Results: (1) The woman exhibited a 13.
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Eur J Med Genet
February 2024
Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Denmark; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Short stature or shortening of the limbs can be the result of a variety of genetic variants. Achondroplasia is the most common cause of disproportionate short stature and is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene (FGFR3). Short stature homeobox (SHOX) deficiency is caused by loss or defects of the SHOX gene or its enhancer region.
View Article and Find Full Text PDFVariations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.
J Clin Res Pediatr Endocrinol
March 2024
Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Department of Medical Genetics, Lucknow, India
Objective: Short stature homeobox () haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of variations in ISS varies from 2.5% to 15.
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