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

• Main Authors: Maria Anna Siano (Author), Ilaria De Maggio (Author), Roberta Petillo (Author), Dario Cocciadiferro (Author), Emanuele Agolini (Author), Massimo Majolo (Author), Antonio Novelli (Author), Matteo Della Monica (Author), Carmelo Piscopo (Author)
• Format: Knjiga
• Izdano: MDPI AG, 2022-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...