Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

British Journal of Dermatology

Volumn 163, Issue 6, 2010, Pages 1337-1339

  Marque, M ^a   Gardie, B ^b,c   Bressac De Paillerets, B ^b,d   Rustin, P ^e   Guillot, B ^a   Richard, S ^b,c,d   Bessis, D ^a,d  

^a UNIV MONTPELLIER   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d BICÊTRE HOSPITAL   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Charcot Marie Tooth disease; collagenoma; cutaneous leiomyomatosis; cutis verticis gyrata; fumarate hydratase gene

Indexed keywords

COLLAGEN; FUMARATE HYDRATASE;

ADULT; ALLELE; ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL PROLIFERATION; COLLAGEN DISEASE; CONTROLLED STUDY; CYTOLOGY; DERMIS; DISEASE ASSOCIATION; DNA SEQUENCE; ECHOGRAPHY; ENZYME ACTIVITY; EXON; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CONSERVATION; HAPLOIDY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEIOMYOMATOSIS; LIMB; LYMPHOBLAST; LYMPHOCYTIC CHORIOMENINGITIS; MALE; MEDICAL HISTORY; MUSCLE CELL; PAPULE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SHOULDER; SKIN BIOPSY; SKIN DISEASE; SKIN LEIOMYOMATOSIS; SKIN NODULE; SKIN TUMOR; TRUNK; URINALYSIS;

CARCINOMA, RENAL CELL; CHARCOT-MARIE-TOOTH DISEASE; COLLAGEN DISEASES; FUMARATE HYDRATASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEIOMYOMATOSIS; MALE; MUTATION; SCALP DERMATOSES; SEQUENCE ANALYSIS, DNA; SKIN DISEASES; SKIN NEOPLASMS; YOUNG ADULT;

EID: 78649666877     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09912.x     Document Type: Article

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