Paper Information

Journal:   IRANIAN JOURNAL OF PEDIATRICS   2003 , Volume 13 , Number 2; Page(s) 153 To 159.
 
Paper: 

GENETICS OF HOLT-ORAM SYNDROME

 
 
Author(s):  AKRAMI S.M.*, AMIRI P.
 
* Endocrine & Metabollism Research Center, North Karegar St, Tehran, IR Iran
 
Abstract: 

Holt-Oram syndrome (HOS) is an autosomal dominant disorder, characterised by congenital heart and upper limb malformations. It is a rare disorder, however, there are several groups working on this syndrome worldwide since the genes involved in this syndrome are important to study on the cardiogenesis and development of hand.
Although genetically heterogeneous, HOS is frequently linked to the TBX5 gene. To review the molecular genetics of HOS, this article has been written to highlight the importance of this syndrome and have more attention of pediatricians, cardiologists, heart surgeons, orthopedists and geneticists

 
Keyword(s): HOLT-ORAM SYNDROME, AUTOSOMAL DOMINANT, UPPER LIMB MALFORMATIONS, CONGENITAL HEART MALFORMATIONS
 
References: 
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