Novel compound heterozygous variants in the <i>LARP7</i> gene in a patient with Alazami syndrome.

Dateki, Sumito; Kitajima, Tasuku; Kihara, Toshiharu; Watanabe, Satoshi; Yoshiura, Koh-Ichiro; Moriuchi, Hiroyuki

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.

Dateki, Sumito; Kitajima, Tasuku; Kihara, Toshiharu; Watanabe, Satoshi; Yoshiura, Koh-Ichiro; Moriuchi, Hiroyuki.

Affiliation

Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Kitajima T; Department of Pediatrics, Nagasaki Goto Chuou Hospital, Nagasaki, Japan.
Kihara T; Department of Urology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Watanabe S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Yoshiura KI; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Moriuchi H; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Hum Genome Var ; 5: 18014, 2018.

Article de En | MEDLINE | ID: mdl-29619239

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Prognostic_studies Langue: En Journal: Hum Genome Var Année: 2018 Type de document: Article Pays d'affiliation: Japon Pays de publication: Royaume-Uni

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