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Dolichol kinase deficiency

Field	Value
name	Dolichol kinase deficiency
synonyms	Hypotonia and ichthyosis due to dolichol phosphate deficiency
image	Autosomal recessive - en.svg
caption	This condition is inherited in an autosomal recessive manner.
field	Medical genetics

Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.

It is also known as Congenital disorder of glycosylation 1m.

References

"Orphanet: DK1 CDG".
Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
(March 2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". Am. J. Hum. Genet..

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses glycoprotein-metabolism-disorders rare-diseases

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