Your browser doesn't support javascript.
loading
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Madhu, Rajesh; Beaman, Glenda M; Chandler, Kate E; O'Sullivan, James; Urquhart, Jill E; Khan, Naz; Martindale, Elizabeth; Briggs, Tracy A; Clayton-Smith, Jill; Higgs, Jenny; Batra, Gauri; Kerr, Bronwyn; Woolf, Adrian S; Newman, William G.
Affiliation
  • Madhu R; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Paediatric Neurosciences Department, Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK.
  • Beaman GM; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Chandler KE; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • O'Sullivan J; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Urquhart JE; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Khan N; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Martindale E; Department of Obstetrics and Gynaecology, Royal Blackburn Hospital, Blackburn, UK.
  • Briggs TA; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Clayton-Smith J; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Higgs J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
  • Batra G; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Kerr B; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Woolf AS; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Division of Cell Matrix Biology & Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Newman WG; Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK. Electronic address: william.newman@manchester.ac.uk.
Eur J Med Genet ; 63(9): 103974, 2020 Sep.
Article de En | MEDLINE | ID: mdl-32534991
Sujet(s)
Mots clés
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Radius / Malformations crâniofaciales / Dysplasie rénale multikystique / Anémie de Fanconi / DNA ligase ATP / Troubles de la croissance / Déficits immunitaires / Microcéphalie Type d'étude: Prognostic_studies Limites: Adult / Female / Humans / Male / Newborn / Pregnancy Langue: En Journal: Eur J Med Genet Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Radius / Malformations crâniofaciales / Dysplasie rénale multikystique / Anémie de Fanconi / DNA ligase ATP / Troubles de la croissance / Déficits immunitaires / Microcéphalie Type d'étude: Prognostic_studies Limites: Adult / Female / Humans / Male / Newborn / Pregnancy Langue: En Journal: Eur J Med Genet Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: Royaume-Uni