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AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

BACKGROUND: Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical...

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Detalles Bibliográficos
Autores principales:	Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, O'Kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D, Ennis, Sarah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	New Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502304/ https://www.ncbi.nlm.nih.gov/pubmed/27811305 http://dx.doi.org/10.1136/jmedgenet-2016-104100

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