Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report

BACKGROUND: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is a rare, autosomal, dominant neurological disorder caused by mutations in the ZMYM2 gene. To date, the clinical and functional characteristics of the novel ZMYM2 mutation c.2090_2091del have...

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Detalles Bibliográficos
Autores principales: Li, Yi, Zhou, Zheng, Xu, Yan, Wang, Zhi-Ru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294165/
https://www.ncbi.nlm.nih.gov/pubmed/37383123
http://dx.doi.org/10.12998/wjcc.v11.i16.3891

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294165/
https://www.ncbi.nlm.nih.gov/pubmed/37383123
http://dx.doi.org/10.12998/wjcc.v11.i16.3891

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