Wilson-Turner syndrome

Definition:

Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering fingers. WTS is caused by mutations in LAS1L, that plays a role in ribosome biogenesis.

References:

[1]. H Hu, et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016 Jan;21(1):133-48. [Content Brief]

[2]. M Wilson, et al. New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am J Med Genet. 1991 Sep 15;40(4):406-13. [Content Brief]

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