Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identified

Annals of Human Genetics

Volumn 73, Issue 2, 2009, Pages 141-146

  Camposano, Susana E ^a   Greenberg, E ^a   Kwiatkowski, D J ^b   Thiele, E A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Angiomyolipoma; Lymphangioleiomyomatosis; Mosaicism; No mutation identified; Tuberous sclerosis complex

Indexed keywords

PROTEIN DERIVATIVE; PROTEIN TSC1; TUBERIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ANGIOMYOLIPOMA; ARTICLE; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE IDENTIFICATION; GENETIC CORRELATION; GENETIC VARIABILITY; HUMAN; INCIDENCE; INFANT; INFANTILE SPASM; KIDNEY DISEASE; LYMPHANGIOLEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROLOGIC DISEASE; PATHOGENESIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEIZURE; SEX DIFFERENCE; SKIN MANIFESTATION; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 60549088721     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00496.x     Document Type: Article

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