Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: Additional finding of dicarboxylic aciduria

Cleft Palate-Craniofacial Journal

Volumn 39, Issue 2, 2002, Pages 246-248

  Okajima, Kazuki ^a   Asai, Kiyofumi ^a   Niwa, Toshimitsu ^a   Ohki, Shigeru ^a   Sobajima, Hisanori ^a   Tyson, Jess ^a   Malcolm, Sue ^a   Wada, Yoshiro ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Acanthosis nigricans; Dicarboxylic acids; Fibroblast growth factor receptors; Growth; Sensorineural hearing loss; Thanatophoric dysplasia

Indexed keywords

3 HYDROXYDICARBOXYLIC ACID DERIVATIVE; DICARBOXYLIC ACID; DICARBOXYLIC ACID DERIVATIVE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; UNCLASSIFIED DRUG;

ACANTHOSIS NIGRICANS; ACIDURIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; HEARING LOSS; HETEROZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIODIAGNOSIS; THANATOPHORIC DWARFISM; URINARY EXCRETION; URINE LEVEL;

ACANTHOSIS NIGRICANS; CARBOXYLIC ACIDS; CHILD; DICARBOXYLIC ACIDS; FIBROBLAST GROWTH FACTORS; FOLLOW-UP STUDIES; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; POINT MUTATION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; THANATOPHORIC DYSPLASIA;

EID: 0036125346     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/1545-1569(2002)039<0246:CABFOA>2.0.CO;2     Document Type: Article

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