Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes

摘要

(purple arrow) and (green arrow) genes on chromosome 7q22.3-q31.1 (marked with red bar) are shown. The promoters of these genes are marked with arrows and the deletion causative for CLD with a red square bracket. The two nearest enhancer elements are shown, of which one is 17.8 kb upstream of ; none is near . The 8.6 kb deletion responsible for CLD extends upstream only about half-way to the nearest enhancer element. The image is a screen capture from the FANTOM5 database ( )