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Article

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

The Journal of pediatrics - 1 Mar 2013

Vodopiutz Julia, Zoller Heinz, Fenwick Aimée L, Arnhold Richard, Schmid Max, Prayer Daniela, Müller Thomas, Repa Andreas, Pollak Arnold, Aufricht Christoph, Wilkie Andrew O M, Janecke Andreas R

Abstract excerpt

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 sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23069192
DOI: 10.1016/j.jpeds.2012.08.042
PMCID: PMC3757162

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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