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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

SLC26A3 (purple arrow) and SLC26A4 (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 SLC26A3 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 SLC26A3; none is near SLC26A4. 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 (http://fantom.gsc.riken.jp/zenbu)

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BMC Medical Genetics

ISSN: 1471-2350

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