Rubinstein Taybi Like Syndrome

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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Rubinstein Taybi Like Syndrome is related to chromosome 16p13.3 deletion syndrome, proximal and multiple pterygium syndrome, escobar variant. An important gene associated with Rubinstein Taybi Like Syndrome is ASXL1 (ASXL Transcriptional Regulator 1), and among its related pathways/superpathways are PKMTs methylate histone lysines and Formation of WDR5-containing histone-modifying complexes. Related phenotypes are neoplasm and craniofacial
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
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Unknown
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3
52
1

Medical Symptom

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Gene & Mutation

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References Literature

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