country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

CEDNIK syndrome

Definition:

CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family of proteins, is linked to abnormal lamellar granule maturation and abnormal epidermal differentiation.

References:

[1]. D Fuchs-Telem, et al. CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol. 2011 Mar;164(3):610-6. [Content Brief]

[2]. Eli Sprecher, et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 2005 Aug;77(2):242-51. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #