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Article

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Clinical dysmorphology - 1 Oct 2016

Koçak Eker Hatice, Altunoglu Umut, Toksoy Güven, Kayserili Hülya

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Source

Identifiers

PMID: 27552067
DOI: 10.1097/MCD.0000000000000121

Genes

TBX5

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.PMID 27552067Read ↗

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.Semantic proximity Read ↗

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsSemantic proximity Read ↗

Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene.Semantic proximity Read ↗

Holt-Oram syndrome.Semantic proximity Read ↗

[Holt-Oram syndrome: study of 7 cases].Semantic proximity Read ↗

[TBX5 mutation in Chinese patients with Holt-Oram syndrome].Semantic proximity Read ↗

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.Semantic proximity Read ↗

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

Identification of new mutations in the TBX<i>5</i> gene in patients with Holt-Oram syndromeSemantic proximity Read ↗

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.Semantic proximity Read ↗

Molecular characterization of a deep intronic TBX5 variant in a familial case of Holt-Oram syndromeSemantic proximity Read ↗

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.Semantic proximity Read ↗

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