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Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González, Julia; Seidel, Verónica; Andrés-Zayas, Cristina; Izquierdo, Elvira; Buño, Ismael.
Affiliation
  • Suárez-González J; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), C/Doctor Esquerdo 46, 28007, Madrid, Spain.
  • Seidel V; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
  • Andrés-Zayas C; Clinical Genetics, Department of Pediatrics, Gregorio Marañón General University Hospital, Madrid, Spain.
  • Izquierdo E; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), C/Doctor Esquerdo 46, 28007, Madrid, Spain.
  • Buño I; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
BMC Med Genomics ; 14(1): 91, 2021 03 26.
Article in En | MEDLINE | ID: mdl-33771153
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bardet-Biedl Syndrome / Homozygote Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: BMC Med Genomics Year: 2021 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bardet-Biedl Syndrome / Homozygote Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: BMC Med Genomics Year: 2021 Document type: Article