Alazami syndrome
Definition:
Verweise:
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[1]. Anas M Alazami, et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat. 2012 Oct;33(10):1429-34. [Content Brief]
[2]. Tina T Ling, et al. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet A. 2016 Jan;170A(1):217-9. [Content Brief]
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