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A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype
BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be charact...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762001/ https://www.ncbi.nlm.nih.gov/pubmed/36536324 http://dx.doi.org/10.1186/s12883-022-03023-3 |