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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Bibliografiske detaljer
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
Sprog:Inglês
Udgivet: BMJ Group 2007
Fag:
Original Article
Online adgang: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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