Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 977-983

  Graul Neumann, Luitgard M ^a   Hausser, Ingrid ^b   Essayie, Maximilian ^a   Rauch, Anita ^c   Kraus, Cornelia ^c  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Autosomal dominant congenital cutis laxa; Elastin gene; Tropoelastin

Indexed keywords

ELASTIN; GENOMIC DNA; RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CUTIS LAXA; ELASTIC FIBER; ELECTRON MICROSCOPY; FAMILY HISTORY; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INFANT; MALE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN FIBROBLAST; CELL CULTURE; DERMIS; DOMINANT GENE; FIBROBLAST; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; PATHOLOGY; RNA SPLICING;

ADULT; CELLS, CULTURED; CUTIS LAXA; DERMIS; ELASTIN; FIBROBLASTS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON; MUTATION; RNA SPLICING;

EID: 42949108200     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32242     Document Type: Article

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