A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

@article{Dubruc2014ANI,
  title={A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.},
  author={Estelle Dubruc and Audrey Putoux and A. Labalme and Christelle Rougeot and D. Sanlaville and Patrick Edery},
  journal={American journal of medical genetics. Part A},
  year={2014},
  volume={164A 6},
  pages={1571-5}
}
A girl patient born to healthy nonconsanguineous parents was referred at age 3 years and 2 months to our genetics department for testing due to developmental delay and postnatal microcephaly. Initial clinical evaluation revealed an overall developmental delay, mildly dysmorphic features, thin, sparse fair hair, and fair skin. Postnatal microcephaly and progressive ataxia and spasticity appeared later. Array CGH karyotyping showed a 333 kb de novo microdeletion on 3p22 covering the entire… CONTINUE READING
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