Homozygous SALL1 mutation causes a novel multiple congenital anomaly - Mental retardation syndrome

Homozygous SALL1 mutation causes a novel multiple congenital anomaly - Mental retardation syndrome

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Objective: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. Study design: Both siblings were clinically characterized and homozygosity mapping and...

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Bibliographic Details
Main Authors: Vodopiutz, J, Zoller, H, Fenwick, A, Arnhold, R, Schmid, M, Prayer, D, Müller, T, Repa, A, Pollak, A, Aufricht, C, Wilkie, A, Janecke, A
Format: Journal article
Language:English
Published: 2013

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