A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities

Enrique Nogueira; Beatriz Del Olmo; Lara Babín; Génesis Vizuete; Concepción Lobo; Cecilia González

doi:10.1111/cge.14645

A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities

Clin Genet. 2024 Nov 12. doi: 10.1111/cge.14645. Online ahead of print.

Authors

Enrique Nogueira^{1

2

3}, Beatriz Del Olmo³, Lara Babín⁴, Génesis Vizuete³, Concepción Lobo³, Cecilia González³

Affiliations

¹ Clinical Genetics, University Hospital La Zarzuela, Madrid, Spain.
² Clinical Genetics, University Hospital San Rafael, Madrid, Spain.
³ Molecular Diagnostics, Eurofins-Megalab, Madrid, Spain.
⁴ Pediatric Neurology, University Hospital San Rafael, Madrid, Spain.

PMID: 39532686
DOI: 10.1111/cge.14645

Abstract

A novel compound heterozygous genotype of the WDR73 gene associated with a psychomotor retardation syndrome without cerebellar atrophy and other CNS structural abnormalities.

Keywords: WDR73; compound heterozygous; novel mutations; psychomotor retardation.