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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Rappold, Gudrun, Blum, Werner F, Shavrikova, Elena P, Crowe, Brenda J, Roeth, Ralph, Quigley, Charmian A, Ross, Judith L, Niesler, Beate
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2007
Θέματα:
Original Article
Διαθέσιμο Online: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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