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Items: 7

1.

A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix.

Winter H, Vabres P, Larrègue M, Rogers MA, Schweizer J.

Hum Hered. 2000 Sep-Oct;50(5):322-4. No abstract available.

PMID:
10878478
2.

A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.

Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H.

J Invest Dermatol. 1998 Nov;111(5):896-9. Review.

3.

Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.

Yang J, Liang Y, Zeng K, Huang L, Zheng M.

Int J Dermatol. 2014 Feb;53(2):206-9. doi: 10.1111/ijd.12193. Epub 2013 Nov 21. Review.

PMID:
24261346
4.

Keratin disorders: from gene to therapy.

McLean WH, Moore CB.

Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. doi: 10.1093/hmg/ddr379. Epub 2011 Sep 2. Review.

5.

Congenital hair loss disorders: rare, but not too rare.

Shimomura Y.

J Dermatol. 2012 Jan;39(1):3-10. doi: 10.1111/j.1346-8138.2011.01395.x. Epub 2011 Nov 2. Review.

PMID:
22044263
6.
7.

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA.

Br J Dermatol. 2001 Aug;145(2):330-5. Review.

PMID:
11531804
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