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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 a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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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 4 Sept 2026. Prepared record publication-23069192-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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