The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2018）
关键词
abnormal corpus callosum,ARID1B,Coffin-Siris syndrome,HHID,hyperkeratosis,hypertrichosis,intellectual disability,minor anomalies
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