Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

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 c...

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Hlavní autoři: Abou Jamra, Rami, Philippe, Orianne, Raas-Rothschild, Annick, Eck, Sebastian H., Graf, Elisabeth, Buchert, Rebecca, Borck, Guntram, Ekici, Arif, Brockschmidt, Felix F., Nöthen, Markus M., Munnich, Arnold, Strom, Tim M., Reis, Andre, Colleaux, Laurence
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113253/
https://ncbi.nlm.nih.gov/pubmed/21620353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.019
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