A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

Revisiting pachyonychia congenita: a case‐cohort study of 815 patients

(2019) L. Samuelov et al.   BRITISH JOURNAL OF DERMATOLOGY

Somatic mosaicism for theCOL7A1mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

(2015) P.C. van den Akker et al.   BRITISH JOURNAL OF DERMATOLOGY

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor

(2015) C. Ejerskov et al.   CLINICAL GENETICS

Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for theCOL7A1mutation p.Gly2043Arg in the pregnant mother

(2015) J. Shen et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

The molecular genetic analysis of the expanding pachyonychia congenita case collection

(2014) N.J. Wilson et al.   BRITISH JOURNAL OF DERMATOLOGY

Paternal Germ Cell Mosaicism in Autosomal Dominant Pachyonychia Congenita

(2011) Lana N. Pho   ARCHIVES OF DERMATOLOGY

The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita

(2011) W.H. Irwin McLean et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

(2010) Wei Qin et al.   HUMAN GENETICS

Two Multiplex Assays That Simultaneously Identify 22 Possible Mutation Sites in the KRAS, BRAF, NRAS and PIK3CA Genes

(2010) Irene Lurkin et al.   PLoS One