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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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
格式: Journal article
語言:English
出版: 2013

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