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| tarp_syndrome [2025/05/19 00:00] – [Eye Findings] Scott Larson | tarp_syndrome [2025/06/14 02:21] (current) – [Resources] Scott Larson |
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| * As of 2021- 24 patients in 13 families have been described in the literature | * As of 2021- 24 patients in 13 families have been described in the literature |
| ====Resources==== | ====Resources==== |
| * {{::phenotypic_spectrum_of_rbm10_mediated_intellectual_disability_and_congenital_malformation_syndrome_beyond_classic_tarp_syndrome_features.pdf |Kumps C. et al. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Clinical Genetics 2021;99:449-456.}} | - [[https://1drv.ms/b/c/31d83ae8e55e0542/EW8YFXEcDANOieZakeZMU1MBayRLkdEKN9sGCofnA6lY8w?e=c97hIn |Kumps C. et al. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Clinical Genetics 2021;99:449-456.]] |
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| {{tag>syndrome}} | {{tag>syndrome}} |