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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Bibliographic Details
Main Authors: Rappold, Gudrun, Blum, Werner F, Shavrikova, Elena P, Crowe, Brenda J, Roeth, Ralph, Quigley, Charmian A, Ross, Judith L, Niesler, Beate
Format: Artigo
Language:Inglês
Published: BMJ Group 2007
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Original Article
Online Access: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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