Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Al-Rakan, Maha A; Abothnain, Manal D; Alrifai, Muhammad T; Alfadhel, Majid

Al-Rakan, Maha A; Abothnain, Manal D; Alrifai, Muhammad T; Alfadhel, Majid.

Affiliation

Al-Rakan MA; Deapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Abothnain MD; Deapartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Alrifai MT; Division of Neurology, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Ar
Alfadhel M; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490, Riyad

BMC Ophthalmol ; 18(1): 147, 2018 Jun 22.

Article in En | MEDLINE | ID: mdl-29929488

Subject(s)

DNA/genetics; Hernia, Hiatal/genetics; Microcephaly/genetics; Mutation, Missense; Nephrosis/genetics; Proteins/genetics; Retinal Diseases/etiology; DNA Mutational Analysis; Electroretinography; Female; Follow-Up Studies; Hernia, Hiatal/complications; Hernia, Hiatal/diagnosis; Humans; Infant; Microcephaly/complications; Microcephaly/diagnosis; Nephrosis/complications; Nephrosis/diagnosis; Phenotype; Proteins/metabolism; Retinal Diseases/diagnosis; Retinal Diseases/metabolism

Key words

Absence of perinatal and neonatal renal dysfunction; Galloway-Mowat syndrome; Retinal dysfunction; WDR37

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / DNA / Proteins / Mutation, Missense / Hernia, Hiatal / Microcephaly / Nephrosis Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant Language: En Journal: BMC Ophthalmol Journal subject: OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: Saudi Arabia Country of publication: United kingdom

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