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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, O'Kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D, Ennis, Sarah
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2017
Pynciau:
New Loci
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5502304/
https://ncbi.nlm.nih.gov/pubmed/27811305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104100
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg