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Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Cesarato, Nicole; Wehner, Maria; Ghughunishvili, Mariam; Schmidt, Axel; Axt, Daisy; Thiele, Holger; Lentze, Michael J; Has, Cristina; Geyer, Matthias; Basmanav, Fitnat Buket; Betz, Regina C.
Afiliação
  • Cesarato N; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Wehner M; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Ghughunishvili M; Givi Zhvania Academic Clinic of Pediatrics, Tbilisi State Medical University, Tbilisi, Georgia.
  • Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Axt D; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Lentze MJ; Department of Pediatrics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Has C; Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Geyer M; Institute of Structural Biology, University of Bonn, School of Medicine, Bonn, Germany.
  • Basmanav FB; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Betz RC; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Am J Med Genet A ; 185(12): 3900-3904, 2021 12.
Article em En | MEDLINE | ID: mdl-34318586
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transferases Intramoleculares / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Hipotricose Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transferases Intramoleculares / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Hipotricose Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article