id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_p4qks47yl5da5llgwj7wr3dfxe	Piya Lahiry	A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems	2009.0	14	.pdf	application/pdf	8684	924	59	Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. Autozygosity mapping and sequencing identified a previously unknown missense mutation, R272Q, in ICK, encoding intestinal cell 272) on ICK protein structure, function, and pathological implication was predicted with four online tools, namely PMUT,15 Overall, affected individuals had ventricular hydrocephalus, midline cleft lip and palate, abnormal bone development manifesting as micromelia, bowing of the long bones, Autozygosity Mapping of ECO-Affected Pedigree Identified an Amino Acid Change, R272Q, in ICK The ICK R272Q mutation underlying the ECO syndrome implicates intestinal cell kinase A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems	./cache/work_p4qks47yl5da5llgwj7wr3dfxe.pdf	./txt/work_p4qks47yl5da5llgwj7wr3dfxe.txt