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
40949918 (PubMed )
Supplement: tp-14-08-1991-supplementary.pdf
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
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
Phenotype delineation of ZNF462 related syndrome.
Kruszka P et al.
American Journal of Medical Genetics. Part A, 2019
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
Weiss K et al.
European Journal of Human Genetics : Ejhg, 2017
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