bibliographicCitation |
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck S, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt F, Nöthen M, Munnich A, Strom T, Reis A, Colleaux L. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature. The American Journal of Human Genetics. 2011 Jun;88(6):788–95. doi: 10.1016/j.ajhg.2011.04.019. |