Article
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 - 1 Oct 2024
Perrone Eduardo, Coelho Antonio Victor Campos, Virmond Luiza do Amaral, Espolaor Jessica Grasiela de Araujo, Filho João Bosco de Oliveira, Nascimento Amanda Thamires Batista do, Matta Marina Cadena da, Meira Joanna Goes Castro, Cardoso-Júnior Laércio Moreira, Andrade Ana Camila Mendes, Chaves Ricardo Zantieff Topolski, Amorim Tatiana, Acosta Angelina Xavier
Abstract excerpt
Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome. ELMO2 biallelic pathogenic variants were also described in...
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