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
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Johnston JJ et al.
American Journal of Medical Genetics. Part A, 2014
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
Johnston JJ et al.
American Journal of Human Genetics, 2010
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