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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
von Elsner, Leonie; Chai, Guoliang; Schneeberger, Pauline E; Harms, Frederike L; Casar, Christian; Qi, Minyue; Alawi, Malik; Abdel-Salam, Ghada M H; Zaki, Maha S; Arndt, Florian; Yang, Xiaoxu; Stanley, Valentina; Hempel, Maja; Gleeson, Joseph G; Kutsche, Kerstin.
Affiliation
  • von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Chai G; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
  • Schneeberger PE; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.
  • Harms FL; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
  • Casar C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Qi M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Abdel-Salam GMH; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Zaki MS; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Arndt F; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Yang X; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt.
  • Stanley V; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Hempel M; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt.
  • Gleeson JG; Department for Pediatric Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Kutsche K; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Brain ; 145(4): 1551-1563, 2022 05 24.
Article in En | MEDLINE | ID: mdl-34694367
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Neurodevelopmental Disorders / Growth Disorders / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Germany Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Neurodevelopmental Disorders / Growth Disorders / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Germany Country of publication: United kingdom