Tuberous sclerosis complex without tubers and subependymal nodules: A phenotype-genotype study

Clinical Genetics

Volumn 86, Issue 2, 2014, Pages 149-154

  Boronat, S ^a,b   Shaaya, E A ^a   Doherty, C M ^a   Caruso, P ^a   Thiele, E A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

Mosaicism; Neural crest; No mutation identified (NMI); Tuberous sclerosis complex (TSC)

Indexed keywords

CELL DNA; PEPTIDES AND PROTEINS; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ANGIOMYOLIPOMA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EMBRYO DEVELOPMENT; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMANGIOFIBROMA; HUMAN; LEUKOCYTE; LYMPHANGIOLEIOMYOMATOSIS; MALE; MIDDLE AGED; MOSAICISM; MUTATIONAL ANALYSIS; NEURAL CREST; NEURAL CREST CELL; NEUROANATOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; RHABDOMYOMA; SCHOOL CHILD; TUBEROUS SCLEROSIS; ADOLESCENT; AGED; BRAIN; GENETIC ASSOCIATION; GENETICS; INFANT; PATHOLOGY; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; TUBEROUS SCLEROSIS; YOUNG ADULT;

EID: 84904611746     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12245     Document Type: Article

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