Renpenning syndrome
Definition:
References:
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[1]. Claus Lenski, et al. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet. 2004 Apr;74(4):777-80. [Content Brief]
[2]. Roger E Stevenson, et al. Renpenning syndrome comes into focus. Am J Med Genet A. 2005 May 1;134(4):415-21. [Content Brief]
[3]. Xiao-Yan Zhang, et al. Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. Hum Mol Genet. 2017 Mar 1;26(5):955-968. [Content Brief]
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