Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis | Zendy

Lihi Atzmony | Zendy; H. Khan | Zendy; Young Hee Lim | Zendy; Amy S. Paller | Zendy; Jonathan Levinsohn | Zendy; Kristen E. Holland | Zendy; Fatima N. Mirza | Zendy; Emily S. Yin | Zendy; Christine J. Ko | Zendy; Jonathan S. Leventhal | Zendy; Keith A. Choate | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis

Author(s) -

Lihi Atzmony,

H. Khan,

Young Hee Lim,

Amy S. Paller,

Jonathan Levinsohn,

Kristen E. Holland,

Fatima N. Mirza,

Emily S. Yin,

Christine J. Ko,

Jonathan S. Leventhal,

Keith A. Choate

Publication year - 2019

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2019.0016

Subject(s) - porokeratosis , germline mutation , germline , genodermatosis , mutation , genetics , loss of heterozygosity , exome sequencing , compound heterozygosity , medicine , exome , biology , pathology , dermatology , gene , allele

Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research