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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
BACKGROUND: A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is episodic extreme irritability and inconsolability. We now charact...
Autores principales: | Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E., Smith, Edward C., Tan, Queenie K.-G., Shashi, Vandana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476425/ https://www.ncbi.nlm.nih.gov/pubmed/37667351 http://dx.doi.org/10.1186/s13023-023-02891-3 |
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