Associated Papers
Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.
Orimoto R et al.
Journal of Human Genetics, 2025
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM et al.
Plos Genetics, 2017
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