A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.

Mehawej, Cybel; Ibrahim, Maroun; Khalife, Lynn; Chouery, Eliane; El Hachem, Setrida; Sayad, Alain; El Traboulsi, Aya; Inati, Adlette; Megarbane, Andre

Mehawej, Cybel; Ibrahim, Maroun; Khalife, Lynn; Chouery, Eliane; El Hachem, Setrida; Sayad, Alain; El Traboulsi, Aya; Inati, Adlette; Megarbane, Andre.

Afiliação

Mehawej C; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Ibrahim M; Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Khalife L; Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Chouery E; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
El Hachem S; Department of Natural Sciences, Lebanese American University, Byblos, Lebanon.
Sayad A; Department of Pediatrics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
El Traboulsi A; Department of Pediatric Hematology, Rafic Hariri University Hospital, Beirut and North Specialty Clinics, Tripoli, Lebanon.
Inati A; Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Megarbane A; Division of Pediatric Hematology Oncology, Nini Hospital, Tripoli, Lebanon.

Clin Genet ; 105(2): 202-208, 2024 02.

Article em En | MEDLINE | ID: mdl-37830462

Assuntos

Mutação da Fase de Leitura; Síndromes Mielodisplásicas; Feminino; Humanos; Pré-Escolar; Mutação; Síndromes Mielodisplásicas/genética; Heterozigoto; Homozigoto; Peptídeos e Proteínas de Sinalização Intracelular/genética

Palavras-chave

SAMD9; fever; growth retardation; inflammation; loss of function; whole genome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Mutação da Fase de Leitura Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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