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Article

Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation.

Prenatal diagnosis - 1 Feb 2006

Chen Chih-Ping, Su Yi-Ning, Lin Shuan-Pei, Lin Mei-Ling, Wang Wayseen

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PMID: 16470573
DOI: 10.1002/pd.1375

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Related research

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Research trail→

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Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation.PMID 16470573Read ↗

Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.Semantic proximity Read ↗

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.Semantic proximity Read ↗

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2Semantic proximity Read ↗

Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta.Semantic proximity Read ↗

A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.Semantic proximity Read ↗

Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.Semantic proximity Read ↗

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.Semantic proximity Read ↗

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Semantic proximity Read ↗

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.Semantic proximity Read ↗

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.Semantic proximity Read ↗

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.Semantic proximity Read ↗

[Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester].Semantic proximity Read ↗

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