Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene

Journal of Dermatological Science

Volumn 48, Issue 1, 2007, Pages 61-63

  Gonzalez Huerta, Luz M ^a   Cuevas Covarrubias, Sergio A ^a   Messina Baas, Olga M ^a  

^a SECRETARÍA DE SALUD   (Mexico)

Author keywords

Tricho rhino phalangeal; TRPS I syndrome; TRPS1 gene

Indexed keywords

DNA; PROTEIN; TRICHORHINOPHALANGEAL TYPE I SYNDROME PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME ANALYSIS; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; LETTER; MALE; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE; TRICHORHINOPHALANGEAL TYPE I SYNDROME; WECHSLER INTELLIGENCE SCALE;

ADULT; DNA-BINDING PROTEINS; GENOTYPE; HUMANS; MALE; MENTAL RETARDATION; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 34548020276     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.06.005     Document Type: Letter

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