Details

Autor(en) / Beteiligte

• Malvezzi, João Vm
• H Magalhaes, Ingrid
• S Costa, Silvia
• Otto, Paulo A
• Rosenberg, Carla
• Bertola, Debora R
• Lm Fernandes, Walter
• Vianna-Morgante, Angela M
• Krepischi, Ana Cv

Titel

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

Ist Teil von

• Human genome variation, 2018-01, Vol.5 (1), p.18010-18010, Article 18010

Ort / Verlag

England: Springer Nature B.V

Erscheinungsjahr

2018

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• mutations are known to cause autosomal dominant microcephaly-lymphedema-chorioretinopathy dysplasia syndrome, associated or not with intellectual disability. We report a father and two children presenting microcephaly, chorioretinopathy and mild intellectual disability associated with a 209-kb microdeletion at 10q23.33. This microdeletion encompasses the entire gene. In addition to point mutations, haploinsufficiency due to a deletion is causally associated with autosomal dominant microcephaly, chorioretinopathy and mild intellectual disability.