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Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Mendelian DisorderAutoimmune DiseaseIntragenic Molecular SyndromologyGenetic DisorderDisease MechanismPathogenesisImmunologyPathologyDisease Gene IdentificationNeuropathologyMedicineDifferent ProteinPitt-hopkins SyndromeConnective Tissue Disease