Associated Papers
Expanding the Phenotypic Spectrum of DPH2 -Related Disorder.
Gowda VK et al.
American Journal of Medical Genetics. Part A, 2025
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
Hawer H et al.
European Journal of Human Genetics : Ejhg, 2020
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
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