Inherited 2q23.1 microdeletions involving the MBD5 locus

BACKGROUND: Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5‐Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS: This study investigates three families with inherited MBD5 mutation...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Tadros, Shereen, Wang, Rubin, Waters, Jonathan J., Waterman, Christine, Collins, Amanda L., Collinson, Morag N., Ahn, Joo W., Josifova, Dragana, Chetan, Ravi, Kumar, Ajith
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5606852/
https://ncbi.nlm.nih.gov/pubmed/28944244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.316
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