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Article

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

8 Feb 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22317976
DOI: 10.1038/ejhg.2012.2

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Related research

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Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndromePMID 22317976Read ↗

A De Novo Mutation Destroys the Central Repeated Domain of TCOF1 in a Chinese Family with Treacher Collins SyndromeSemantic proximity Read ↗

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.Semantic proximity Read ↗

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.Semantic proximity Read ↗

Treacher Collins syndrome: Unmasking the role of Tcof1/treacleSemantic proximity Read ↗

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.Semantic proximity Read ↗

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.Semantic proximity Read ↗

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].Semantic proximity Read ↗

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.Semantic proximity Read ↗

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Semantic proximity Read ↗

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.Semantic proximity Read ↗

De novo TCOF1 mutation in Treacher Collins syndrome.Semantic proximity Read ↗

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.Semantic proximity Read ↗

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