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Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.

Alfawaz, S; Fong, F; Plagnol, V; Wong, FS; Fearne, J; Kelsell, DP; (2013) Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol , 58 (5) 462 - 466. 10.1016/j.archoralbio.2012.12.008.

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Abstract

Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.

Type: Article
Title: Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
Location: England
DOI: 10.1016/j.archoralbio.2012.12.008
Language: English
Keywords: Adolescent, Anodontia, Base Sequence, Calcium-Binding Proteins, Child, Consanguinity, DNA Mutational Analysis, Female, Genes, Recessive, Homozygote, Humans, London, Male, Molecular Sequence Data, Mutation, Odontogenesis, Pakistan, Pedigree
UCL classification: UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
URI: http://discovery.ucl.ac.uk/id/eprint/1384615
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