Title: | Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy |
Journal : | American journal of human genetics, 100, 3 |
Authors: | Osborn DPS ; Pond HL ; Mazaheri N ; Dejardin J ; Munn CJ ; Mushref K ; Cauley ES ; Moroni I ; Pasanisi MB ; Sellars EA ; Hill RS ; Partlow JN ; Willaert RK ; Bharj J ; Malamiri RA ; Galehdari H ; Shariati G ; Maroofian R ; Mora M ; Swan LE ; Voit T ; Conti FJ ; Jamshidi Y ; Manzini MC |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 537 |
Languages: | English |
Keywords: | INPP5K;Marinesco-Sjogren syndrome;SKIP;cataracts;dystroglycanopathy;inositol phosphatase;intellectual disability;muscular dystrophy |
Pubmed / DOI : | Pubmed : 28190459 / DOI : 10.1016/j.ajhg.2017.01.019 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28190459 |