Shukla-Vernon syndrome
Definition:
References:
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[1]. Anju Shukla, et al. Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. Am J Med Genet A. 2019 May;179(5):870-874. [Content Brief]
[2]. Janneke H M Schuurs-Hoeijmakers, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet. 2013 Dec;50(12):802-11. [Content Brief]
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