Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome [6]

Journal of Medical Genetics

Volumn 39, Issue 2, 2002, Pages 136-141

  Dauwerse, J G ^a   Bouman, K ^a   Van Essen, A J ^a   Van der Hout, A H ^a   Kolsters, G ^a   Breuning, M H ^a   Peters, D J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 16; CHROMOSOME 16P; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION X; COMPUTER ASSISTED TOMOGRAPHY; FACE DYSMORPHIA; GENE DELETION; GENE LOCATION; GENE MAPPING; HEARING LOSS; HEMODIALYSIS; HUMAN; KIDNEY POLYCYSTIC DISEASE; LETTER; MALE; NAGER ACROFACIAL DYSOSTOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDACTYLY; TUBEROUS SCLEROSIS;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; DYSOSTOSES; HUMANS; MALE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; REPRESSOR PROTEINS; SYNDROME; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0036169593     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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