A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.

Shawli, Aiman M; Nazer, Abdulaziz T; Khayyat, Yasir; Alqurashi, Mohammed G; Hakami, Fahad

Shawli, Aiman M; Nazer, Abdulaziz T; Khayyat, Yasir; Alqurashi, Mohammed G; Hakami, Fahad.

Afiliación

Shawli AM; General Pediatrics and Pediatric Genetics, King Abdulaziz Medical City Jeddah, Jeddah, SAU.
Nazer AT; Internal Medicine, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Khayyat Y; Internal Medicine, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Alqurashi MG; Internal Medicine, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Hakami F; Pathology and Laboratory Medicine/Genetics, King Abdulaziz Medical City Jeddah, Jeddah, SAU.

Cureus ; 13(12): e20543, 2021 Dec.

Article en En | MEDLINE | ID: mdl-35070570

Palabras clave

alkylglycerone phosphate synthase; autosomal recessive disorders; peroxisomal disorders; rhizomelic chondrodysplasia punctata; rhizomelic chondrodysplasia punctata type 3

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Cureus Año: 2021 Tipo del documento: Article

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