Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

@article{HellmanAharony2013MicrocephalyTC,
  title={Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.},
  author={Shlomit Hellman-Aharony and P. Smirin-Yosef and Ayelet Halevy and Metsada Pasmanik-Chor and Adva Yeheskel and Adi Har-Zahav and Idit Maya and Rachel Straussberg and Dvir Dahary and Ami Haviv and Mordechai Shohat and Lina Basel-Vanagaite},
  journal={Pediatric neurology},
  year={2013},
  volume={49 6},
  pages={
          411-416.e1
        }
}
BACKGROUND The combination of microcephaly, pyramidal signs, abnormal corpus callosum, and intellectual disability presents a diagnostic challenge. We describe an autosomal recessive disorder characterized by microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability. METHODS We previously mapped the locus for this disorder to 8q23.2-q24.12; the candidate region included 22 genes. We performed Sanger sequencing of 10 candidate genes; to ensure other genes in the… CONTINUE READING

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