Tuberous sclerosis complex typo 1 (TSC1): Dianostic significance of the cutaneous minilesions in a familia presentation;Complejo esclerosis tuberosa tipo 1 (CET1): Importancia diagnóstica de las minilesiones cutáneas en los casos de presentación familiar

Neurologia

Volumn 21, Issue 7, 2006, Pages 386-388

  Pascual Castroviejo, Ignacio ^a,c   Pascual Pascual, S ^a   Velazquez R ^a   Van Den Ouweland, A M W ^b   Halley, D J J ^b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c NONE   (Spain)

Author keywords

Cutaneous minilesions in TSC1; Tuberous sclerosis; Tuberous sclerosis complex type 1 (TSC1)

Indexed keywords

TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHROMOSOME 9; CHROMOSOME DELETION; CHROMOSOME MUTATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; FAMILY HEALTH; FEMALE; HUMAN; MALE; RADIODIAGNOSIS; SKIN DEFECT;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; PEDIGREE; PHENOTYPE; TUBEROUS SCLEROSIS;

EID: 33749675023     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

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4. The European Chromosome 16 Tuberous Sclerosis Consortion. Identification and characterisation of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15.
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7. Debora SL, Jozwiaks S, Franz DN, Roberts PS, Nieto AA, Chung J, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2 compared with TSC1 disease in multiple organs. Am J Hum Genet 2001;68:64-80.