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Article

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

BMC medical genomics - 17 Sept 2013

Dinwiddie Darrell L, Soden Sarah E, Saunders Carol J, Miller Neil A, Farrow Emily G, Smith Laurie D, Kingsmore Stephen F

Abstract excerpt

BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24044690
DOI: 10.1186/1755-8794-6-32
PMCID: PMC3851682

Genes

ASXL3

Variants

Provenance

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De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.PMID 24044690Read ↗

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