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Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17.
J Hum Genet. 2016.
PMID: 26984564
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group.
Fukami M, et al.
J Hum Genet. 2015 Sep;60(9):553-6. doi: 10.1038/jhg.2015.53. Epub 2015 Jun 4.
J Hum Genet. 2015.
PMID: 26040210
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Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group.
Kawashima S, et al.
J Pediatr Endocrinol Metab. 2020 Aug 31;33(10):1335-1339. doi: 10.1515/jpem-2020-0198.
J Pediatr Endocrinol Metab. 2020.
PMID: 32866124
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