A Recurrent Pathogenic Variant in TPM2...

Clinical Genetics 2020 / 02

A Recurrent Pathogenic Variant in TPM2 Reveals Further Phenotypic and Genetic Heterogeneity in Multiple Pterygium Syndrome‐Related Disorders

Vogt, Julie, Al‐Saedi, Atif, Willis, Tracey, Male, Alison, McKie, Arthur, Kiely, Nigel, Maher, Eamonn R.
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Journal:
Clinical Genetics
DOI:
10.1111/cge.13728
Date:
February, 2020
File:
PDF, 6.14 MB
2020
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