Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

Journal of Medical Genetics

Volumn 47, Issue 12, 2010, Pages 859-862

  Bourdeaut, Franck ^a,b,c   Hérault, Aurélie ^c   Gentien, David ^c   Pierron, Gaëlle ^c   Ballet, Stelly ^c   Reynaud, Stéphanie ^c   Paris, Régine ^d   Schleiermacher, Gudrun ^b,c   Baumann, Clarisse ^d   Philippe Chomette, Pascale ^d   Gauthier Villars, Marion ^c   Peuchmaur, Michel ^d,e   Radvanyi, François ^c   Delattre, Olivier ^b,c  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b INSERMU830   (France)

^c INSTITUT CURIE   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; K RAS PROTEIN;

ACANTHOSIS; ARTICLE; BECKER NEVUS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DERMIS; DNA EXTRACTION; ECHOCARDIOGRAPHY; EPIDERMIS; FAILURE TO THRIVE; FEEDING DISORDER; GENE AMPLIFICATION; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HUMAN; HYPERKERATOSIS; INFANT; KIDNEY POLYCYSTIC DISEASE; LASER CAPTURE MICRODISSECTION; MOSAICISM; PAPILLOMATOSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SKELETON RADIOGRAPHY; SKIN BIOPSY;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; NEVUS, SEBACEOUS OF JADASSOHN; PHENOTYPE; POLYCYSTIC KIDNEY DISEASES; PROTO-ONCOGENE PROTEINS; RAS PROTEINS; RHABDOMYOSARCOMA;

EID: 78649620521     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.075374     Document Type: Article

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