High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 889-891

  Wieland, Ilse ^a   Tinschert, Sigrid ^b,c   Zenker, Martin ^a  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AKT1 GENE; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; EPIDERMAL NEVUS; EPIDERMIS; EXON; GENE; GENE MUTATION; HAMARTOMA; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPEROSTOSIS; LETTER; LIPOMATOSIS; MALE; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOSAICISM; MULTIPLE CANCER; MUTATIONAL ANALYSIS; NEVUS; NOSE RECONSTRUCTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY; SOMATIC MOSAICISM;

BASE SEQUENCE; CHILD, PRESCHOOL; HUMANS; MALE; MOSAICISM; MUTATION; NEVUS; PHENOTYPE; PROTEUS SYNDROME; PROTO-ONCOGENE PROTEINS C-AKT; SKIN NEOPLASMS; YOUNG ADULT;

EID: 84875516587     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35764     Document Type: Letter

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