A Novel Compound Heterozygous Genotype of the <i>WDR73</i> Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other <scp>CNS</scp> Structural Abnormalities
A novel compound heterozygous genotype of the WDR73 gene associated with a psychomotor retardation syndrome without cerebellar atrophy and other CNS structural abnormalities.
Authors
- Beatriz del Olmo
- M. Cecilia Gonzalez Corcia (ORCID: https://orcid.org/0000-0002-4289-049X)
- Concepción Lobo
- Génesis Vizuete
- Enrique Nogueira (ORCID: https://orcid.org/0000-0003-0693-4026)
- Lara Babín
Institutions
- Hospital La Luz (ES)
- Hospital Universitario San Rafael (ES)
- Hospital Universitario Sanitas La Zarzuela (ES)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-11-12
- DOI
- https://doi.org/10.1111/cge.14645
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.38