Phenotypic evolution of UNC80 loss of function
نویسندگان
چکیده
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متن کاملPhenotypic spectrum associated with CASK loss-of-function mutations.
BACKGROUND Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia. METHODS The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2016
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37929