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Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

BACKGROUND: Microduplications are a rare cause of disease in X‐linked neurodevelopmental disorders but likely have been under reported due challenges in detection and interpretation. METHODS: We performed exome sequencing and subsequent microarray analysis in two families with a neurodevelopmental d...

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Detalles Bibliográficos
Autores principales:	Kokkonen, Hannaleena, Siren, Auli, Määttä, Tuomo, Kamila Kadlubowska, Magda, Acharya, Anushree, Nouel‐Saied, Liz M., Leal, Suzanne M., Järvelä, Irma, Schrauwen, Isabelle
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683627/ https://www.ncbi.nlm.nih.gov/pubmed/33982443 http://dx.doi.org/10.1002/mgg3.1703

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