Associated Papers
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C et al.
Clinical Genetics, 2021
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Imagawa E et al.
Clinical Genetics, 2020
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
Niceta M et al.
European Journal of Medical Genetics, 2019
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