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Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

✍ Scribed by Gertrud Strobl-Wildemann; Vera M. Kalscheuer; Hao Hu; Klaus Wrogemann; Hans-Hilger Ropers; Andreas Tzschach


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
951 KB
Volume
155
Category
Article
ISSN
1552-4825

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Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual famili