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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
Journal article   Open access  Peer reviewed

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al-Falki, Saleh M. Al-Qahtani, Tarfa Alsheddi, Dilek Colak and Fowzan S. Alkuraya
Human mutation, Vol.33(10), pp.1429-1434
10/2012
PMID: 22865833

Abstract

HMGA1 LARP7 ncRNA primordial dwarfism RN7SK
url
https://doi.org/10.1002/humu.22175View
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