PhenomeGene — Human Disease Gene Website SeriesKLHL15

Publications

Mignon-Ravix C et al. Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. Am J Med Genet A. 2014 Aug;164A(8):1991-7. PMID: 24817631.

Hu H et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016 Jan;21(1):133-48. PMID: 25644381.

Caswell RC et al. Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.Eur J Med Genet. 2023 Jun;66(6):104768. PMID: 37059329.

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