Article
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
Human mutation - 1 Oct 2012
Alazami Anas M, Al-Owain Mohammad, Alzahrani Fatema, Shuaib Taghreed, Al-Shamrani Hussain, Al-Falki Yahya H, Al-Qahtani Saleh M, Alsheddi Tarfa, Colak Dilek, Alkuraya Fowzan S
Abstract excerpt
Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, and abnormal replication licensing. Here, we describe a syndromic form of PD associated with severe intellectual disability and distinct...
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