IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report.

Marhoon, Sara E; Ali, Ali H; Husain, Ali; Alsudan, Ali A; Elshabrawy, Eman G

Marhoon, Sara E; Ali, Ali H; Husain, Ali; Alsudan, Ali A; Elshabrawy, Eman G.

Afiliação

Marhoon SE; College of Medicine, Mansoura University, Mansoura, EGY.
Ali AH; College of Medicine, Mansoura University, Mansoura, EGY.
Husain A; College of Medicine, Mansoura University, Mansoura, EGY.
Alsudan AA; Pediatrics, Maternity and Children's Hospital, Dammam, SAU.
Elshabrawy EG; Pediatric Nephrology, Mansoura University Children Hospital, Mansoura, EGY.

Cureus ; 16(2): e53889, 2024 Feb.

Article em En | MEDLINE | ID: mdl-38465144

Palavras-chave

case report; ciliopathy; end-stage renal disease (esrd); ift140; intraflagellar transport protein; mainzer-saldino syndrome; nephronophthisis; pneumonia

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article