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analysis of prevalence of haploinsufficiency of short stature homeobox containing gene (SHOX) deficiency (SHOXD) in a population of short-statured children
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Included in the region distal to Xq28 is the gene MECP2 and this patient presents with features of MECP2 duplication syndrome. We find that this patient has skeletal features not typical with the loss of SHOX that are likely explained by the rearrangement of the X chromosome
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A molecular analysis of the SHOX gene revealed five patients with intragenic deletions, one with a deletion in the regulatory region, and one with a missense mutation at exon 5. The phenotype scoring system is useful to select children with SHOX deficiency in Taiwan.
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SHOX deficiency is associated with growth disorders.
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extra SHOX copy found in three of 81 girls with tall stature
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SHOX mutations: etiopathogenesis of short stature and limb development.
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SHOX haploinsufficiency has a role in short stature in children
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A concomitant duplication of SHOX enhancers may be required to trigger a NDD in females.
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Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency.
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SHOX duplications encompassing CNE-9 enhancer are highly penetrant alleles for Leri-Weill dyschondrosteosis.
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Evaluation of the data and that in the literature reveals that although partial deletions and duplications only account for a small fraction of SHOX alterations, intron 3 appears to be a breakpoint hotspot, with alterations arising by non-allelic homologous recombination, non-homologous end joining or other complex mechanisms.
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Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
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This study shows that expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritislike disease of the temporomandibular joint in postnatal mice. This provides a novel in vivo model for studying the molecular and cellular mechanisms of temporomandibular joint osteoarthritis.
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we detected an SHOX gene deletion in 1 of 38 children with idiopathic short stature
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The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.
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this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs.
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SHOX haploinsufficiency is associated with 45,X disorder of sexual differentiation.
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Microduplications involving SHOX cause Idiopathic short stature by disrupting the cis-regulatory machinery of this gene.
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Mutation analysis of the SHOX gene indicated that a novel heterozygous deletion mutation of SHOX was responsible for the isolated Madelung deformity disease
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mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength
