De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face an...

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Detalles Bibliográficos
Autores principales: Siano, Maria Anna, De Maggio, Ilaria, Petillo, Roberta, Cocciadiferro, Dario, Agolini, Emanuele, Majolo, Massimo, Novelli, Antonio, Della Monica, Matteo, Piscopo, Carmelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954887/
https://www.ncbi.nlm.nih.gov/pubmed/35324822
http://dx.doi.org/10.3390/pediatric14010019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954887/
https://www.ncbi.nlm.nih.gov/pubmed/35324822
http://dx.doi.org/10.3390/pediatric14010019

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