颅骨融合是 BCL11B 相关 BAFF 病表型谱的一部分。
关键词: BAFopathy BCL11B craniosynostosis immunodeficiency neurodevelopment transcription factor
Mesh : Humans Transcription Factors / genetics Craniosynostoses / diagnosis genetics Frameshift Mutation Phenotype Tumor Suppressor Proteins / genetics Intellectual Disability / genetics Neurodevelopmental Disorders / genetics Repressor Proteins / genetics
来 源:
DOI:10.1002/ajmg.a.63330
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