Pediatrics international, 2021-12, Vol.63 (12), p.1536-1538
2021
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Details
- Autor(en) / Beteiligte
- Titel
- Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
- Ist Teil von
- Pediatrics international, 2021-12, Vol.63 (12), p.1536-1538
- Ort / Verlag
- Australia: Blackwell Publishing Ltd
- Erscheinungsjahr
- 2021
- Quelle
- MEDLINE
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1328-8067eISSN: 1442-200XDOI: 10.1111/ped.14647Titel-ID: cdi_proquest_miscellaneous_2566039628
- Format
- –
- Schlagworte
- Child, Preschool, Codon, Nonsense, developmental delay, epilepsy, Female, Haploinsufficiency, Humans, Intellectual Disability - genetics, MEF2 Transcription Factors - genetics, MEF2C, Mutation, Neurodevelopmental disorders, Neurodevelopmental Disorders - etiology, Neurodevelopmental Disorders - genetics, next‐generation sequencing, Nonsense mutation, Pediatrics, Phenotype