Associated Papers
Novel variants in ZNF462 and phenotype update in patients with Weiss-Kruszka syndrome: a case series.
Huai W et al.
Translational Pediatrics, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review.
Li L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.
Hau A et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.
González-Tarancón R et al.
Acta Clinica Belgica, 2022
A Nonsense Variant of ZNF462 Gene Associated With Weiss-Kruszka Syndrome-Like Manifestations: A Case Study and Literature Review.
Zhao S et al.
Frontiers in Genetics, 2022
Case report: A heterozygous mutation in ZNF462 leads to growth hormone deficiency.
Zhou Y et al.
Frontiers in Genetics, 2022
Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome.
Park J et al.
Journal of Korean Medical Science, 2021
Phenotype delineation of ZNF462 related syndrome.
Kruszka P et al.
American Journal of Medical Genetics. Part A, 2019
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