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A rare and unique genetic complementing CREBBP plus ASH1L mutations presenting as an mixed Menke-Hennekam- Rubistein-Taybi-ASH1L syndrome with autistic phenotype case report

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Bibliographic Details
Published in:Journal of the neurological sciences 2023-12, Vol.455, p.122771, Article 122771
Main Authors: Trillo Alvarez, Wolfgang, Medina Suárez, Joshua, Calderón Paiva, Gabriel, Gonzales Romero, Patrick, Ramos Luza, Erika, Escalante Ortiz, Jonatan, Delgado Villanueva, Luis, Valdivia Pino, Juan, Gomez Azcue, Angela
Format: Article
Language:English
Online Access:Get full text
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ISSN:0022-510X
DOI:10.1016/j.jns.2023.122771