ea0022p259 | Developmental endocrinology | ECE2010
Itoh Masayuki
, Okazaki Shin
, Miyata Rie
, Inoue Takeshi
, Akashi Takumi
, Hayashi Masaharu
, Goto Yuichi
Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. Although some of the brain pathology of XLAG has already been described, the crucial extra-brain symptoms are severe growth retardation, transient hyperglycemia and intractable diarrhea. Since ARX expresses in the islets of Langerhans du...