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Article

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

American journal of medical genetics. Part A - 1 Aug 2012

Désir Julie, Cassart Marie, Donner Catherine, Coucke Paul, Abramowicz Marc, Mortier Geert

Abstract excerpt

We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild brachydactyly. Mutation analysis of COL2A1 identified a novel in-frame deletion c.4458_4460delCTT (p.Phe1486del) in the C-propeptide region of the molecule, confirming the clinical diagnosis. The phenotype in the mother was compatible...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22495950
DOI: 10.1002/ajmg.a.35301

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Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.PMID 22495950Read ↗

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