TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings

American Journal of Dermatopathology

Volumn 31, Issue 6, 2009, Pages 532-541

  Kacerovska, Denisa ^a   Vrtel, Radek ^b   Michal, Michal ^a,c   Vanecek, Tomas ^a   Vodicka, Radek ^a   Kreuzberg, Boris ^a   Ricarova, Renata ^a   Pizinger, Karel ^a   Danis, Dusan ^d   Reischig, Tomas ^a   Kazakov, Dmitry V ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

^c BIOPTICAL LABORATORY   (Czech Republic)

^d Cytopathos   (Slovakia)

Author keywords

Adenoma sebaceum; Autosomal dominant polycystic kidney disease; Chromosome 16p13.3; Fibrous papule; Melanocytic hyperplasia; Multiplex ligation probe amplification; TSC2 PKD1 contiguous gene syndrome; Tuberous sclerosis complex

Indexed keywords

POLYCYSTIN 1; TUBERIN;

ADULT; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; EPILEPSY; EPITHELIUM HYPERPLASIA; ERYTHEMA; FEMALE; GENE DELETION; GENETIC DISORDER; GINGIVA FIBROMATOSIS; HEMANGIOFIBROMA; HEMODIALYSIS; HISTOPATHOLOGY; HUMAN; HYPOPLASIA; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; KIDNEY TRANSPLANTATION; MACULOPAPULAR RASH; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DISEASE; SKIN DISEASE; SKIN EXAMINATION; TOOTH DISEASE; TSC2 PKD1 CONTIGUOUS GENE SYNDROME; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; SKIN DISEASES; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 68949097291     PISSN: 01931091     EISSN: None     Source Type: Journal    
DOI: 10.1097/DAD.0b013e3181970e44     Document Type: Article

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