A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type i (TRPS1) with fish-like malodour

Journal of the European Academy of Dermatology and Venereology

Volumn 24, Issue 3, 2010, Pages 358-359

  Nakamura, M ^a   Sugita, K ^a   Tokura, Y ^a  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVIN CONTAINING MONOOXYGENASE 3; OXYGENASE; PROTEIN; TRICHORHINOPHALANGEAL SYNDROME TYPE 1 PROTEIN; TRIMETHYLAMINE; UNCLASSIFIED DRUG; DNA; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR; TRPS1 PROTEIN, HUMAN;

AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; EPIPHYSIS; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HAIR GROWTH; HAND RADIOGRAPHY; HUMAN; INTERPHALANGEAL JOINT; JOINT SWELLING; LETTER; LIVER DISEASE; MICROGNATHIA; MISSENSE MUTATION; PRIORITY JOURNAL; PROMINENT EAR; RADIODIAGNOSIS; RECESSIVE INHERITANCE; SCALP HAIR; SCANTY HAIR; SCHOOL CHILD; SKIN DISEASE; TRICHORHINOPHALANGEAL SYNDROME TYPE 1; TRIMETHYLAMINURIA; BONE DYSPLASIA; CRANIOFACIAL MALFORMATION; FINGER; GENETICS; HAIR; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CHILD; CRANIOFACIAL ABNORMALITIES; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FINGERS; HAIR; HUMANS; MUTATION, MISSENSE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 76349117902     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2009.03406.x     Document Type: Letter

References (9)

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