Your browser doesn't support javascript.
loading
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
Schulz, Solveig; Mensah, Martin A; de Vries, Heike; Fröber, Rosemarie; Romeike, Bernd; Schneider, Uwe; Borte, Stephan; Schindler, Detlev; Kentouche, Karim.
Affiliation
  • Schulz S; Center of Human Genetics, Jena University Hospital, Jena, Germany. Solveig.Schulz@zam.uniklinikum-jena.de.
  • Mensah MA; Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
  • de Vries H; Berlin Institute of Health (BIH), 10178, Berlin, Germany.
  • Fröber R; Department of Pediatrics, Jena University Hospital, Jena, Germany.
  • Romeike B; Department of Anatomy, Jena University Hospital, Jena, Germany.
  • Schneider U; Department of Neuropathology, Jena University Hospital, Jena, Germany.
  • Borte S; Clinic of Obstetrics and Gynecology, Jena University Hospital, Jena, Germany.
  • Schindler D; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies at the Municipal Hospital St. Georg, Leipzig, Germany.
  • Kentouche K; Department of Human Genetics, Institute of Human Genetics, Biozentrum, University of Wurzburg, Wurzburg, Germany.
Eur J Hum Genet ; 26(9): 1282-1287, 2018 09.
Article in En | MEDLINE | ID: mdl-29760432
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Nuclear Proteins / Limb Deformities, Congenital / Cell Cycle Proteins / Dwarfism / Microcephaly Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Germany Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Nuclear Proteins / Limb Deformities, Congenital / Cell Cycle Proteins / Dwarfism / Microcephaly Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Germany Country of publication: United kingdom