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Article

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

Clinical dysmorphology - 1 Oct 2011

Cesaretti Claudia, Gentilin Barbara, Bianchi Vera, Melloni Giulia, Bonaguro Michela, Rossi Cesare, Meazzini Costanza, Brusati Roberto, Lalatta Faustina

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Identifiers

PMID: 21772136
DOI: 10.1097/MCD.0b013e3283491725

Genes

TCOF1

Provenance

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Related research

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Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.PMID 21772136Read ↗

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.Semantic proximity Read ↗

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

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.Semantic proximity Read ↗

Treacher Collins Syndrome: Genetics, Clinical Features and ManagementSemantic proximity Read ↗

A Novel Pathogenic Variant in POLR1D (c.220dup, p.His74ProfsTer8) Causes Treacher Collins Syndrome Type 2 in a Chinese Patient：A Case ReportSemantic proximity Read ↗

Treacher Collins Syndrome: the genetics of a craniofacial disease.Semantic proximity Read ↗

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.Semantic proximity Read ↗

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

Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.Semantic proximity Read ↗

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.Semantic proximity Read ↗

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.Semantic proximity Read ↗

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.Semantic proximity Read ↗

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