皮特 - 霍普金斯综合征的诊断和治疗 : 第一个国际共识声明。
关键词: Pitt-Hopkins syndrome TCF4 autonomic dysfunction diagnostic criteria guidelines molecular diagnostic pathway syndromic behavior
Mesh : Age Factors Combined Modality Therapy Diagnosis, Differential Disease Management Disease Susceptibility Facies Genetic Testing Humans Hyperventilation / diagnosis etiology therapy Intellectual Disability / diagnosis etiology therapy Mutation Phenotype Transcription Factor 4 / genetics
来 源:
DOI:10.1111/cge.13506
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