Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

@article{Jamra2011AdaptorPC,
  title={Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.},
  author={Rami Abou Jamra and Orianne Philippe and Annick Raas-Rothschild and Sebastian H. Eck and Elisabeth Graf and Rebecca Buchert and Guntram Borck and Arif B. Ekici and Felix F. Brockschmidt and Markus M. N{\"o}then and Arnold Munnich and Tim Matthias Strom and Andr{\'e} Reis and Laurence Colleaux},
  journal={American journal of human genetics},
  year={2011},
  volume={88 6},
  pages={788-795}
}
Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly… CONTINUE READING
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