ELMO2 Biallelic Pathogenic Variants in a Patient With Gingival Hypertrophy and Cherubism Phenotype: Case Report and Molecular Review (vol 194, e63602, 2024)

被引：0

作者：

Perrone, Eduardo ^{[1
,2
]}

Coelho, Antonio Victor Campos ^{[1
]}

Virmond, Luiza do Amaral ^{[1
]}

Espolaor, Jessica Grasiela de Araujo ^{[1
,2
]}

de Oliveira Filho, Joao Bosco ^{[1
]}

do Nascimento, Amanda Thamires Batista ^{[1
]}

da Matta, Marina Cadena ^{[1
]}

Meira, Joanna Goes Castro ^{[3
]}

Cardoso-Junior, Laercio Moreira ^{[4
]}

Andrade, Ana Camila Mendes ^{[3
]}

Chaves, Ricardo Zantieff Topolski ^{[5
]}

Amorim, Tatiana ^{[6
]}

Acosta, Angelina Xavier ^{[3
,7
]}

机构：

[1] Hosp Israelita Albert Einstein, Sao Paulo, SP, Brazil

[2] Univ Fed Sao Paulo, Dept Morfol & Genet, Sao Paulo, Brazil

[3] Hosp Univ Prof Edgard St HUPES, Serv Genet Med, Salvador, BA, Brazil

[4] Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, Rs, Brazil

[5] Hosp Clin Univ Sao Paulo, Disciplina Cirurgia Cabeca & Pescocodo, Sao Paulo, Brazil

[6] APAE, Serv Referencia Doencas Raras, Salvador, BA, Brazil

[7] Univ Fed Bahia, Dept Pediat, Fac Med Bahia, Salvador, BA, Brazil

来源：

关键词：

D O I：

10.1002/ajmg.a.64055

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：1

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