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Article

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Clinical dysmorphology - 1 Jan 2013

Al-Hashmi Nadia, Imtiaz Faiqa, Ramzan Khushnooda, Faden Maha, Shuaib Taghreed, Al-Otaibi Lefian, Al-Hemidan Amal, Al-Owain Mohammed

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PMID: 23188137
DOI: 10.1097/MCD.0b013e32835c297e

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Research trail→

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Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.PMID 23188137Read ↗

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The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.Semantic proximity Read ↗

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.Semantic proximity Read ↗

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.Semantic proximity Read ↗

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defectSemantic proximity Read ↗

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.Semantic proximity Read ↗

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.Semantic proximity Read ↗

A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.Semantic proximity Read ↗

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