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SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed, Ikhlas; Ouarda, Wael; Frikha, Fakher; Kammoun, Fatma; Souissi, Amal; Ben Said, Mariem; Bouzid, Amal; Elloumi, Ines; Hamdani, Tarak M; Gharbi, Nourhene; Baklouti, Nesrine; Guirat, Manel; Mejdoub, Fatma; Kharrat, Najla; Boujelbene, Imene; Abdelhedi, Fatma; Belguith, Neila; Keskes, Leila; Gibriel, Abdullah Ahmed; Kamoun, Hassen; Triki, Chahnez; Alimi, Adel M; Masmoudi, Saber.
Affiliation
  • Ben Ayed I; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Ouarda W; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Frikha F; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
  • Kammoun F; ReGIM-Lab, Research Groups in Intelligent Machines, LR11ES48, National School of Engineers of Sfax, Sfax, Tunisia.
  • Souissi A; Faculty of Sciences of Sfax (FSS), University of Sfax, Sfax, Tunisia.
  • Ben Said M; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Bouzid A; Research Laboratory "Neuropédiatrie", LR19ES15, Sfax University, Sfax, Tunisia.
  • Elloumi I; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Hamdani TM; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Gharbi N; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Baklouti N; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Guirat M; ReGIM-Lab, Research Groups in Intelligent Machines, LR11ES48, National School of Engineers of Sfax, Sfax, Tunisia.
  • Mejdoub F; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Kharrat N; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
  • Boujelbene I; ReGIM-Lab, Research Groups in Intelligent Machines, LR11ES48, National School of Engineers of Sfax, Sfax, Tunisia.
  • Abdelhedi F; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Belguith N; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Keskes L; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Gibriel AA; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Kamoun H; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
  • Triki C; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.
  • Alimi AM; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
  • Masmoudi S; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Am J Med Genet A ; 185(4): 1081-1090, 2021 04.
Article in En | MEDLINE | ID: mdl-33403770
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Abnormalities, Multiple / Cataract / Muscular Atrophy / Congenital Disorders of Glycosylation / Membrane Proteins Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Year: 2021 Document type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Abnormalities, Multiple / Cataract / Muscular Atrophy / Congenital Disorders of Glycosylation / Membrane Proteins Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Year: 2021 Document type: Article