Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.
Ketenci-İşlek S et al.
Molecular Syndromology, 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
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
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
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