Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

Clinical Genetics

Volumn 87, Issue 4, 2015, Pages 378-382

  Moalem, S ^a   Brouillard, P ^b   Kuypers, D ^c   Legius, E ^c   Harvey, E ^a   Taylor, G ^a   Francois, M ^d   Vikkula, M ^b,e   Chitayat, D ^a,f  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b Laboratory of Human Molecular Genetics   (Canada)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^f MOUNT SINAI HOSPITAL   (Canada)

Author keywords

HLTRS; HLTS; Lymphatics; Lymphedema; Mosaicism; Renal failure; SOX18 gene

Indexed keywords

CORTICOSTEROID; ENALAPRIL; GENOMIC DNA; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMMUNOSUPPRESSIVE AGENT; TRANSCRIPTION FACTOR SOX18; SOX18 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADOLESCENT; ADULT; ALOPECIA; ARTICLE; BASAL CELL CARCINOMA; BELL PALSY; CASE REPORT; CHILD; CHILDHOOD; CHRONIC KIDNEY FAILURE; CORTICOSTEROID THERAPY; DNA DETERMINATION; ELECTRON MICROSCOPY; EPISTAXIS; EXON; FACE EDEMA; FACIES; FETUS DEATH; FETUS HYDROPS; GENE MUTATION; GENETIC ANALYSIS; GLOMERULONEPHRITIS; GLOMERULUS BASEMENT MEMBRANE; HAIR LOSS; HIPPOCAMPAL SCLEROSIS; HUMAN; HYDROCELE; HYPERPLASIA; HYPERTENSION; HYPOTRICHOSIS LYMPHEDEMA TELANGIECTASIA; IMMUNOSUPPRESSIVE TREATMENT; KIDNEY ALLOGRAFT; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY HYPERTROPHY; KIDNEY TRANSPLANTATION; LEARNING DISORDER; LUNG EDEMA; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; MICROANGIOPATHY; MICROVILLUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERITONEAL DIALYSIS; PODOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; PROTEINURIA; RECURRENT DISEASE; SCANTY HAIR; SCROTUM DISORDER; TELANGIECTASIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; TRANSACTIVATION; BELGIUM; CANADA; CONGENITAL MALFORMATION; DNA SEQUENCE; GENETICS; HETEROZYGOTE; HYPOTRICHOSIS; KIDNEY; LYMPHEDEMA; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION;

BASE SEQUENCE; BELGIUM; CANADA; HETEROZYGOTE; HUMANS; HYPOTRICHOSIS; KIDNEY; KIDNEY TRANSPLANTATION; LYMPHEDEMA; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SOXF TRANSCRIPTION FACTORS; TELANGIECTASIS;

EID: 84925239689     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12388     Document Type: Article

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