Ontology highlight
ABSTRACT:
SUBMITTER: Boycott KM
PROVIDER: S-EPMC4678439 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Boycott Kym M KM Beaulieu Chandree L CL Kernohan Kristin D KD Gebril Ola H OH Mhanni Aziz A Chudley Albert E AE Redl David D Qin Wen W Hampson Sarah S Küry Sébastien S Tetreault Martine M Puffenberger Erik G EG Scott James N JN Bezieau Stéphane S Reis André A Uebe Steffen S Schumacher Johannes J Hegele Robert A RA McLeod D Ross DR Gálvez-Peralta Marina M Majewski Jacek J Ramaekers Vincent T VT Nebert Daniel W DW Innes A Micheil AM Parboosingh Jillian S JS Abou Jamra Rami R
American journal of human genetics 20151201 6
Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing ...[more]