Associated Papers
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Vogt J et al.
Clinical Genetics, 2020
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S et al.
Bmc Medical Genetics, 2018
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2013
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