A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

✍ Scribed by Morava, Eva; Zeevaert, Renate; Korsch, Eckhard; Huijben, Karin; Wopereis, Suzan; Matthijs, Gert; Keymolen, Kathelijn; Lefeber, Dirk J; De Meirleir, Linda; Wevers, Ron A

• Book ID: 110027063
• Publisher: Nature Publishing Group
• Year: 2007
• Tongue: English
• Weight: 59 KB
• Volume: 15
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/sj.ejhg.5201863