Associated Papers
Expanding the Phenotypic Spectrum of DPH2 -Related Disorder.
Gowda VK et al.
American Journal of Medical Genetics. Part A, 2025
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
Makrythanasis P et al.
Human Genomics, 2016
A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness.
Russell TA et al.
Nature Communications, 2014
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