Dolichol kinase deficiency explained

Dolichol kinase deficiency
Synonyms:	Hypotonia and ichthyosis due to dolichol phosphate deficiency^[1]
Field:	Medical genetics

Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.^{[2] [3]}

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

See also

• CEDNIK syndrome
• List of cutaneous conditions

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: DK1 CDG . www.orpha.net . 11 April 2019 . en.
2. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
3. Kranz C, Jungeblut C, Denecke J, etal . A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy . Am. J. Hum. Genet. . 80 . 3 . 433–40 . March 2007 . 17273964 . 1821118 . 10.1086/512130 .