Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
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DOI: 10.1038/s41431-020-0676-y
Abstract: SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% of idiopathic short stature (ISS). Deletions removing the entire gene or enhancers and point mutations in the coding region represent a well-established cause of haploinsufficiency.… read more here.
Keywords: haploinsufficiency variants; shox haploinsufficiency; haploinsufficiency; shox expression ... See more keywords
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
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DOI: 10.1159/000524374
Abstract: Introduction: Isolated SHOX haploinsufficiency is a common monogenic cause of short stature. Few studies compare untreated and rhGH-treated patients up to adult height (AH). Our study highlights a growth pattern from childhood to AH in… read more here.
Keywords: rhgh; patients shox; rhgh treated; adult height ... See more keywords
Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency
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DOI: 10.3390/genes14010140
Abstract: Objective: SHOX haploinsufficiency have been commonly found in isolated short stature (ISS) and Léri–Weill dyschondrosteosis (LWD) patients. However, few publications have described the genetic analysis and clinical characteristics of fetuses with SHOX haploinsufficiency. Methods: Chromosomal… read more here.
Keywords: shox haploinsufficiency; fetuses shox; short long; genetic analysis ... See more keywords