Dolichol kinase deficiency

{{Infobox medical condition (new)

| name = Dolichol kinase deficiency

| synonyms = Hypotonia and ichthyosis due to dolichol phosphate deficiency{{cite web |last1=RESERVED |first1=INSERM US14-- ALL RIGHTS |title=Orphanet: DK1 CDG |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 |website=www.orpha.net |access-date=11 April 2019 |language=en}}

| image = Autosomal recessive - en.svg

| caption = This condition is inherited in an autosomal recessive manner.

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| field = Medical genetics

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Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=978-1-4160-2999-1 }}{{cite journal |vauthors=Kranz C, Jungeblut C, Denecke J, etal |title=A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy |journal=Am. J. Hum. Genet. |volume=80 |issue=3 |pages=433–40 |date=March 2007 |pmid=17273964 |pmc=1821118 |doi=10.1086/512130 }}

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

See also

References

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