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Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq, Fatima; Alanzi, Talal; Al-Balool, Haya H; Gardham, Alice; Wakeling, Emma; Leitch, Harry G; AlSayed, Moeenaldeen; Abdulrahim, Maha; Aladwani, Abdulaziz; Romito, Antonio; Kampe, Kapil; Ferdinandusse, Sacha; Aboelanine, Ashraf H; Abdullah, Amira; Alwadani, Amal; Bastaki, Laila; Vaz, Frédéric M; Bertoli-Avella, Aida M; Marafi, Dana.
Affiliation
  • Alabdulrazzaq F; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
  • Alanzi T; Kuwait Institute of Medical Specialization, Sulaibkikhat, Kuwait.
  • Al-Balool HH; Division Medical Genetics and Metabolic, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Gardham A; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
  • Wakeling E; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
  • Leitch HG; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.
  • AlSayed M; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
  • Abdulrahim M; Medical Research Council, London Institute of Medical Sciences, London, UK.
  • Aladwani A; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.
  • Romito A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Kampe K; Faculty of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Ferdinandusse S; King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
  • Aboelanine AH; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
  • Abdullah A; CENTOGENE GmbH, Rostock, Germany.
  • Alwadani A; CENTOGENE GmbH, Rostock, Germany.
  • Bastaki L; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.
  • Vaz FM; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
  • Bertoli-Avella AM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
  • Marafi D; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
Mol Genet Genomic Med ; 11(12): e2256, 2023 Dec.
Article in En | MEDLINE | ID: mdl-37592902
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Ichthyosis / Macular Degeneration Limits: Humans Language: En Journal: Mol Genet Genomic Med Year: 2023 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Ichthyosis / Macular Degeneration Limits: Humans Language: En Journal: Mol Genet Genomic Med Year: 2023 Document type: Article Affiliation country: