id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_4aq4cgxd6veepfxcqzqwjpezsq	Anne M. Slavotinek	Mutations in MKKS cause Bardet-Biedl syndrome	2000.0	2	.pdf	application/pdf	1626	259	70	features of BBS including retinitis pigmentosa (RP), obesity and polydactyly. MKKS mutations in four typical BBS PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and the MKKS region12 confirmed homozygosity at 20p12 in both affected individuals. male proband (the offspring of consanguineous parents) with reduced visual acuity, PAP, obesity and cystic kidneys, and a A fourth BBS family consisted sibling with RP, PAP, obesity, lobulated cystic kidneys and diabetes mellitus. family 4 were heterozygous for this mutation. MKKS is expressed in tissues affected by BBS, including retina, homozygous frameshift mutations are present in three BBS families. MKKS mutations in BBS patients (4/34 Identification of MKKS as a BBS gene Mutations in MKKS cause BardetBiedl syndrome Human Genome Research Institute, NIH, known germline CDH1 mutations4 (Fig. 1a). Methylation of the CDH1 promoter as Mutations in MKKS cause Bardet-Biedl syndrome	./cache/work_4aq4cgxd6veepfxcqzqwjpezsq.pdf	./txt/work_4aq4cgxd6veepfxcqzqwjpezsq.txt