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.
References in periodicals archive ?
CKS has not stopped fostering the motto Be a good Kapampangan to be a better Filipino in the 15 years since the Holy Angel University (HAU) founded the center in 2001.
We appealed the leaders of CKS to show magnanimity by restraining their people from further violence as they (Changs) are our big brothers in the district," the Minister said.
Strategically, CKS is an excellent fit, providing Enviva with a robust and stable fiber supply chain and easy access both to our key European customers as well as to customers in the upper Midwest," Enviva Chairman and Chief Executive Officer John Keppler said.
CKS researchers traveled to diverse urban, small town and even rural and remote environments over the course of an eighteen-month research program that spanned India, China, Indonesia, South Africa, Kenya, Egypt and Brazil.
The PC can be supplied with or without a CKS rugged keyboard; alternatively, a custom keypad can be integrated next to the screen.
CKS was hired by the Billy Graham Association to do the advertising for the Graham Crusades almost two years ago.
The CKS service will provide a set of Topic Reviews about the common conditions managed in primary and first contact care, a news service and links to further information including patient information leaflets and DynaMed.
CKS Holdings Ltd of Swallow End, Swallowfields, Welwyn Garden City, Hertfordshire, tel:0170 732 2528 are currently launching a 15in.
CKS is pleased to present the following update on its Sierra Leone, West Africa project.
CKS Holdings Ltd of Swallow End, Swallowfields, Welwyn Garden City, Hertfordshire, tel:0170 732 2528 have just launched the 128 Keyboard Series, having identified the need for keyboards with certain functionalities.
USWeb/CKS, which formed from the recent merger of USWeb Inc with the larger CKS Group, a marketing communications firm, has bought France's Sysicon SA and the Internetworking Systems Group of Canada on undisclosed terms.