ELMO2 Biallelic Pathogenic Variants in a Patient with Gingival Hypertrophy and Cherubism Phenotype: Case Report and Molecular Review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2024)
关键词
cherubism,ELMO2,gingival hypertrophy,primary intraosseous vascular malformation,Ramon syndrome,whole-genome sequencing
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