Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56–75% and 5–8% of the cases. To date, three KS patients with m...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Lepri, Francesca Romana, Cocciadiferro, Dario, Augello, Bartolomeo, Alfieri, Paolo, Pes, Valentina, Vancini, Alessandra, Caciolo, Cristina, Squeo, Gabriella Maria, Malerba, Natascia, Adipietro, Iolanda, Novelli, Antonio, Sotgiu, Stefano, Gherardi, Renzo, Digilio, Maria Cristina, Dallapiccola, Bruno, Merla, Giuseppe
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2017
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796032/
https://ncbi.nlm.nih.gov/pubmed/29283410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19010082
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