Genotype/Phenotype Correlations in Tuberous Sclerosis Complex

Seminars in Pediatric Neurology

Volumn 22, Issue 4, 2015, Pages 259-273

  Curatolo, Paolo ^a   Moavero, Romina ^a,b   Roberto, Denis ^a   Graziola, Federica ^a  

^a TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HAMARTIN; MAMMALIAN TARGET OF RAPAMYCIN; TUBERIN;

ATTENTION DEFICIT DISORDER; AUTISM; AUTOSOMAL DOMINANT DISORDER; CELL GROWTH; CELL PROLIFERATION; CLINICAL FEATURE; EPILEPSY; EYE DISEASE; FACIAL ANGIOFIBROMA; GENE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEART DISEASE; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY CYST; KIDNEY DISEASE; LIVER DISEASE; LYMPHANGIOLEIOMYOMATOSIS; MENTAL DISEASE; MOLECULAR DIAGNOSIS; MOSAICISM; MUTATIONAL ANALYSIS; NERVE CELL CHARACTERISTICS AND FUNCTIONS; NEUROLOGIC DISEASE; NEURONAL EXCITABILITY; ONSET AGE; PULMONARY LYMPHANGIOLEIOMYOMATOSIS; RETINAL HAMARTOMA; REVIEW; RHABDOMYOMA; SKIN DISEASE; SYNAPTOGENESIS; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS ASSOCIATED NEUROPSYCHIATRIC DISORDER; TUBEROUS SCLEROSIS COMPLEX; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; TUBEROUS SCLEROSIS;

HUMANS; MOSAICISM; PHENOTYPE; TUBEROUS SCLEROSIS;

EID: 84952872443     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2015.10.002     Document Type: Review

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