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Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

American journal of medical genetics. Part A - 1 Jun 2018

Lorenzo Melissa, Stolte-Dijkstra Irene, van Rheenen Patrick, Smith Ronald Garth, Scheers Tom, Walia Jagdeep S

Abstract excerpt

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and...

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PMID: 29693785
DOI: 10.1002/ajmg.a.38667

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