Compound heterozygous <i>FAM20C</i> gene variants in a patient with severe Raine syndrome: a case report.

ChirteÈ, Camelia; BogliÈ, Alina; Toth, Andrea; Rac, Corina; Banescu, Claudia

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.

ChirteÈ, Camelia; BogliÈ, Alina; Toth, Andrea; Rac, Corina; Banescu, Claudia.

Afiliação

ChirteÈ C; Laboratory of Genetics, Department of Genetics, Emergency County Hospital, Târgu MureÈ, Romania.
BogliÈ A; Laboratory of Genetics, Department of Genetics, Emergency County Hospital, Târgu MureÈ, Romania.
Toth A; Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science and Technology, Târgu MureÈ, Romania.
Rac C; Department of Neonatology, Emergency County Hospital, Târgu MureÈ, Romania.
Banescu C; Department of Neonatology, Emergency County Hospital, Târgu MureÈ, Romania.

Front Genet ; 14: 1179163, 2023.

Article em En | MEDLINE | ID: mdl-37180977

Palavras-chave

FAM20C gene; case report; congenital disorder; craniofacial dysmorphism; osteosclerosis; raine syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article