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Article

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.

Clinical genetics - 1 Jun 2020

Vogt Julie, Al-Saedi Atif, Willis Tracey, Male Alison, McKie Arthur, Kiely Nigel, Maher Eamonn R

Abstract excerpt

Multiple pterygium syndrome (MPS) disorders are a phenotypically and genetically heterogeneous group of conditions characterized by multiple joint contractures (arthrogryposis), pterygia (joint webbing) and other developmental defects. MPS is most frequently inherited in an autosomal recessive fashion but X-linked and autosomal dominant forms also occur. Advances in genomic technologies have identified many...

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PMID: 32092148
DOI: 10.1111/cge.13728

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