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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 PDFAdvances in diagnosis and treatment of Madelung's deformity.
Am J Transl Res
July 2023
Department of Hand Surgery, Honghui Hospital, Xi'an Jiaotong University Xi'an 710054, Shaanxi, The People's Republic of China.
Article Synopsis
- - This paper reviews research on Madelung's deformity, a condition affecting the distal radius where the joint tilts and causes wrist and elbow issues, often linked to hereditary and environmental factors.
- - The deformity is more prevalent in females, usually affects both arms, and can be linked to other conditions like Leri-Weill dyschondrosteosis, with symptoms including wrist pain, stiffness, and deformity.
- - Diagnosis relies primarily on X-rays, with MRI used for early detection, and treatment options vary from non-invasive monitoring to several surgical procedures, depending on severity and symptoms.
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous Splice-Site Variant.
Genes (Basel)
April 2023
Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
SHOX deficiency is a common genetic cause of short stature of variable degree. SHOX haploinsufficiency causes Leri-Weill dyschondrosteosis (LWD) as well as nonspecific short stature. haploinsufficiency is known to result from heterozygous loss-of-function variants with pseudo-autosomal dominant inheritance, while biallelic loss-of-function variants cause the more severe skeletal dysplasia, Langer mesomelic dyschondrosteosis (LMD).
View Article and Find Full Text PDFClinical impact of variants in non-coding regions of SHOX - Current knowledge.
Gene
April 2022
Department of Medical Genetics, University Hospital Olomouc, Olomouc, Czech Republic; Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic.
The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short stature patients (ISS) or diagnosed with Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), or Madelung deformity (MD). However, clinical testing of this gene focuses primarily on single nucleotide variants (SNV) in its coding sequences and copy number variants (CNV) overlapping SHOX gene. This review summarizes the clinical impact of variants in noncoding regions of SHOX.
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