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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2017
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Materias: | |
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 |