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Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.
Abidi, Kamal T; Kamal, Naglaa M; Bakkar, Ayman A; Almarri, Saad; Abdullah, Rehab; Alsufyani, Maram; Alharbi, Arwa.
Affiliation
  • Abidi KT; Associate Professor of Pediatrics and Pediatric Nephrology. Faculty of Medecine, Al Manar University, Tunis, Tunisia.
  • Kamal NM; Professor of Pediatrics and Pediatric Hepatology, Pediatric Department, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Bakkar AA; Consultant Pediatric Endocrinologist.
  • Almarri S; Pediatric Resident.
  • Abdullah R; Family Medicine Resident, Alhada Armed Forces Hospital.
  • Alsufyani M; Family Medicine Resident, Alhada Armed Forces Hospital.
  • Alharbi A; Medical Student, Faculty of Medicine, Taif University, Taif, KSA.
Medicine (Baltimore) ; 99(43): e22302, 2020 Oct 23.
Article in En | MEDLINE | ID: mdl-33120733
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Vesicular Transport Proteins / Agenesis of Corpus Callosum / Autophagy-Related Proteins / Homozygote / Mutation Type of study: Guideline / Prognostic_studies Limits: Female / Humans / Infant Country/Region as subject: Asia Language: En Journal: Medicine (Baltimore) Year: 2020 Document type: Article Affiliation country: Tunisia Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Vesicular Transport Proteins / Agenesis of Corpus Callosum / Autophagy-Related Proteins / Homozygote / Mutation Type of study: Guideline / Prognostic_studies Limits: Female / Humans / Infant Country/Region as subject: Asia Language: En Journal: Medicine (Baltimore) Year: 2020 Document type: Article Affiliation country: Tunisia Country of publication: United States