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Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

BACKGROUND: Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox‐containing gene (SHOX) are found quite...

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書誌詳細
主要な著者: Rappold, Gudrun, Blum, Werner F, Shavrikova, Elena P, Crowe, Brenda J, Roeth, Ralph, Quigley, Charmian A, Ross, Judith L, Niesler, Beate
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597980/
https://ncbi.nlm.nih.gov/pubmed/17182655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046581
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