Case report: Birk-Landau-Perez syndrome linked to the <b><i>SLC30A9</i></b> gene-identification of additional cases and expansion of the phenotypic spectrum.

Kizhakkedath, Praseetha; AlDhaheri, Watfa; Baydoun, Ibrahim; Tabouni, Mohammed; John, Anne; Almansoori, Taleb M; Al-Turki, Saeed; Al-Jasmi, Fatma; Alblooshi, Hiba

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Kizhakkedath, Praseetha; AlDhaheri, Watfa; Baydoun, Ibrahim; Tabouni, Mohammed; John, Anne; Almansoori, Taleb M; Al-Turki, Saeed; Al-Jasmi, Fatma; Alblooshi, Hiba.

Afiliação

Kizhakkedath P; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
AlDhaheri W; Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
Baydoun I; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Tabouni M; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
John A; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Almansoori TM; Department of Radiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Turki S; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Jasmi F; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Alblooshi H; Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.

Front Genet ; 14: 1219514, 2023.

Article em En | MEDLINE | ID: mdl-37576556

Palavras-chave

BILAPES; ataxia; developmental regression; hyperechogenic kidneys; oculomotor apraxia; tubulointerstitial nephritis; zinc transporter

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article