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Article

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.

Clinical dysmorphology - 1 Jul 2008

Zechi-Ceide Roseli Maria, Jesus Oliveira Nélio Alessando, Guion-Almeida Maria Leine, Antunes Luís Fernando B B, Richieri-Costa Antonio, Passos-Bueno Maria Rita Santos

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PMID: 18541977
DOI: 10.1097/MCD.0b013e3282fe1b8e

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Related research

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Research trail→

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Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.PMID 18541977Read ↗

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Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Semantic proximity Read ↗

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A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.Semantic proximity Read ↗

COL4A1 gene mutation--beyond a vascular syndrome.Semantic proximity Read ↗

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Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.Semantic proximity Read ↗

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