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Clinical impact of variants in non-coding regions of SHOX - Current knowledge.
Spurna Z, Capkova P, Srovnal J, Duchoslavova J, Punova L, Aleksijevic D, Vrtel R. Spurna Z, et al. Gene. 2022 Apr 15;818:146238. doi: 10.1016/j.gene.2022.146238. Epub 2022 Jan 22. Gene. 2022. PMID: 35074420 Free article. Review.
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, clin …
The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short stature patients (ISS) or …
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A, Ogata T, Rappold GA. Marchini A, et al. Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29. Endocr Rev. 2016. PMID: 27355317 Free PMC article. Review.
Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. In addition, SHOX deficiency contributes to the skeletal features in Turner syndrome. ...C …
Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Leri-Weill dyschondrosteos …
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.
Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic short s …
Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, L …
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
Vodopiutz J, Steurer LM, Haufler F, Laccone F, Garczarczyk-Asim D, Hilkenmeier M, Steinbauer P, Janecke AR. Vodopiutz J, et al. Genes (Basel). 2023 Apr 7;14(4):877. doi: 10.3390/genes14040877. Genes (Basel). 2023. PMID: 37107635 Free PMC article.
SHOX haploinsufficiency is known to result from heterozygous loss-of-function variants with pseudo-autosomal dominant inheritance, while biallelic SHOX loss-of-function variants cause the more severe skeletal dysplasia, Langer mesomelic dyschondrosteosis (LMD). Here …
SHOX haploinsufficiency is known to result from heterozygous loss-of-function variants with pseudo-autosomal dominant inheritance, while bia …
Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.
Depeyre A, Schlund M, Nicot R, Ferri J. Depeyre A, et al. J Oral Maxillofac Surg. 2019 Apr;77(4):762-768. doi: 10.1016/j.joms.2018.11.001. Epub 2018 Nov 12. J Oral Maxillofac Surg. 2019. PMID: 30529377
The 3 typical clinical presentations, from least to most severe, are idiopathic short stature without skeletal malformations, Leri-Weill dyschondrosteosis (LWD), and Langer mesomelic dysplasia, which is believed to represent the homozygous form of LWD. ...This pheno …
The 3 typical clinical presentations, from least to most severe, are idiopathic short stature without skeletal malformations, Leri-Weill dys …
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö. Gürsoy S, et al. J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):358-365. doi: 10.4274/jcrpe.galenos.2020.2019.0001. Epub 2020 Apr 16. J Clin Res Pediatr Endocrinol. 2020. PMID: 32295321 Free PMC article.
The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Leri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). ...
The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Leri-Weill dy …
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.
Poggi H, Vera A, Avalos C, Lagos M, Mellado C, Aracena M, Aravena T, Garcia H, Godoy C, Cattani A, Reyes L, Lacourt P, Rumie H, Mericq V, Arriaza M, Martinez-Aguayo A. Poggi H, et al. Horm Res Paediatr. 2015;84(4):254-7. doi: 10.1159/000439109. Epub 2015 Sep 3. Horm Res Paediatr. 2015. PMID: 26337568
BACKGROUND: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. ...
BACKGROUND: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplas …
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Monzani A, Babu D, Mellone S, Genoni G, Fanelli A, Prodam F, Bellone S, Giordano M. Monzani A, et al. BMC Med Genomics. 2019 Jan 9;12(1):5. doi: 10.1186/s12920-018-0445-8. BMC Med Genomics. 2019. PMID: 30626445 Free PMC article.
Homozygous or compound heterozygous mutations as well as biallelic deletions of SHOX and/or the enhancer regions result in a more severe phenotype, which is known as Langer Mesomelic Dysplasia (LMD; MIM #249700). CASE PRESENTATION: A 17 year old girl, presented with …
Homozygous or compound heterozygous mutations as well as biallelic deletions of SHOX and/or the enhancer regions result in a more severe phe …
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.
Bunyan DJ, Taylor EJ, Maloney VK, Blyth M. Bunyan DJ, et al. Am J Med Genet A. 2014 Nov;164A(11):2764-8. doi: 10.1002/ajmg.a.36724. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25125269
Leri-Weill dyschondrosteosis is caused by heterozygous mutations in SHOX or its flanking sequences, including whole or partial gene deletions, point mutations within the coding sequence, and deletions of downstream regulatory elements. The same mutations when biallelic cause the …
Leri-Weill dyschondrosteosis is caused by heterozygous mutations in SHOX or its flanking sequences, including whole or partial gene deletion …
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Seiersen KV, Henriksen TB, Andelius TCK, Andreasen L, Diemer T, Gudmundsdottir G, Vogel I, Gjørup V, Gregersen PA. Seiersen KV, et al. Eur J Med Genet. 2024 Feb;67:104894. doi: 10.1016/j.ejmg.2023.104894. Epub 2023 Dec 7. Eur J Med Genet. 2024. PMID: 38070826 Free article.
It is associated with a spectrum of phenotypes ranging from normal stature to Leri-Weill dyschondrosteosis characterized by mesomelia and short stature or the more severe Langer mesomelic dysplasia in case of biallelic SHOX deficiency. Little is known about the inte …
It is associated with a spectrum of phenotypes ranging from normal stature to Leri-Weill dyschondrosteosis characterized by mesomelia and sh …