CK syndrome

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CK syndrome

An X-linked disorder (OMIM:300831) characterised by mild to severe cognitive impairment, seizures, microcephaly, malformations of the cerebral cortex, dysmorphic facies, and thin body habitus.  

Molecular pathology
Defects of NSDHL, which encodes a protein involved in cholesterol synthesis, cause CK syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Place(Address): New Orchid Pavilion, CKS Shilin Residence Park, (No.
It was the guerrillas,' said Robby Tantingco, CKS executive director and the movie's writer.
("CKS") is a listed company incorporated in Hong Kong held by Chu Kong Shipping Enterprises (Holdings) Co., Ltd.
While appreciating the concerted efforts played by the CKS to bring normalcy in the aftermath of the recent unfortunate clashes between the Chang and Yimchunger tribes in the Tuensang district, Longon stated that the visiting ENLU team had further appealed to the leaders of the CKS to continue to play as they had been doing all along.
President of the College of Optometrists, David Parkins, said: "The amended CKS makes it clear that it is the competency of the examining practitioner that is important, not their professional designation."
After inducing AD, the CKS-treated group was orally administered a dose of 0.5 or 2 mg/kg of CKS, dissolved in saline, six times per week for 4 weeks.
BA and its derivatives, which were originally considered only to be synthetic CKs, have since been found to be endogenous CKs in some plants (Mok and Mok, 2001).
A Sikander, Jameel Poverty Action Lab Deputy Director John Floretta, and CKS Founder and CEO Dr.
CKs is the largest independent food retailer in south west Wales.
Luminal cells express CKs 7, 8/18, and 19; ER; and epithelial membrane antigen.
introduced its user-programmable DiCoder CKS 36 programmable motor feedback system which provides resolution up to 2,048 pulses per revolution and commutation signals of up to 32 pole pairs.
CKS HOLDINGS LTD, the UK designer and manufacturer of Industrial HMI products--including keyboards, trackerballs, monitors and computers--is launching a ruggedised illuminated keyboard for kiosk applications.