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Quoted phrase not found in phrase index: "Acromesomelic dysplasia 1, Maroteaux type"
Page 1
Evaluation of polysomnography findings in children with genetic skeletal disorders.
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U. Nayır Büyükşahin H, et al. J Sleep Res. 2023 Oct;32(5):e13914. doi: 10.1111/jsr.13914. Epub 2023 May 1. J Sleep Res. 2023. PMID: 37128177
We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive of sleep-disordered breathing in these patients. We retrospectively collected the medical records of patients with genetic skeletal diso …
We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive …
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
Wang W, Song MH, Miura K, Fujiwara M, Nawa N, Ohata Y, Kitaoka T, Kubota T, Namba N, Jin DK, Kim OH, Ozono K, Cho TJ. Wang W, et al. Am J Med Genet A. 2016 Feb;170A(2):426-434. doi: 10.1002/ajmg.a.37463. Epub 2015 Nov 14. Am J Med Genet A. 2016. PMID: 26567084
Homozygous loss-of-function mutations of the NPR2 gene cause acromesomelic dysplasia, type Maroteaux (AMDM). The aim of this study was to identify and characterize NPR2 loss-of-function mutations in patients with AMDM. ...Five novel NPR2 mutations were found …
Homozygous loss-of-function mutations of the NPR2 gene cause acromesomelic dysplasia, type Maroteaux (AMDM). The aim of …