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HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti; Jamshidi, Yalda; Karimiani, Ehsan G; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B; Carroll, Christopher J; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M; Koivunen, Peppi; Rahikkala, Elisa.
Affiliation
  • Kraatari-Tiri M; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Soikkonen L; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Myllykoski M; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Jamshidi Y; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Karimiani EG; Department of Biomedicine, University of Bergen, Bergen, Norway.
  • Komulainen-Ebrahim J; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
  • Kallankari H; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
  • Mignot C; Department of Genetics, Next Generation Polyclinic, Mashhad, Iran.
  • Depienne C; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Keren B; Department of Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Nougues MC; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Alsahlawi Z; Department of Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Romito A; APHP.Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
  • Martini J; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France.
  • Toosi MB; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France.
  • Carroll CJ; Département de Neuropédiatrie, APHP.Sorbonne Université, Hôpital Trousseau, Trousseau, France.
  • Tripolszki K; Department of Pediatrics, Salmaniya Medical Complex, Kingdom of Bahrain, Bahrain.
  • Bauer P; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany.
  • Uusimaa J; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany.
  • Bertoli-Avella AM; Department of Pediatrics, School of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Koivunen P; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
  • Rahikkala E; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany.
Clin Genet ; 102(5): 444-450, 2022 11.
Article in En | MEDLINE | ID: mdl-35908151
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Full text: 1 Database: MEDLINE Main subject: Codon, Nonsense / Prolyl Hydroxylases / Intellectual Disability Limits: Humans Language: En Journal: Clin Genet Year: 2022 Type: Article Affiliation country: Finland
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Full text: 1 Database: MEDLINE Main subject: Codon, Nonsense / Prolyl Hydroxylases / Intellectual Disability Limits: Humans Language: En Journal: Clin Genet Year: 2022 Type: Article Affiliation country: Finland