VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype

Journal of Pediatrics

Volumn 148, Issue 2, 2006, Pages 269-271

  Bull, Laura N ^b   Mahmoodi, Venus ^b   Baker, Alastair J ^b   Jones, Rosamond ^b   Strautnieks, Sandra S ^b   Thompson, Richard J ^b   Knisely, A S ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

EMOLLIENT AGENT; HYDROCORTISONE; THYROTROPIN; THYROXINE; URSODEOXYCHOLIC ACID; VITAMIN;

AMINOACIDURIA; ANAMNESIS; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CHOLESTASIS; CORPUS CALLOSUM AGENESIS; DEATH; ECHOGRAPHY; EDEMA; GENE MUTATION; HUMAN; HYPERBILIRUBINEMIA; ICHTHYOSIS; INFANT; JAUNDICE; KERATOSIS; KIDNEY INJURY; LIVER CELL DAMAGE; LIVER FIBROSIS; MICROSCOPY; PERCEPTION DEAFNESS; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; SKIN BIOPSY; VITAMIN SUPPLEMENTATION;

ARTHROGRYPOSIS; CHOLESTASIS; CORPUS CALLOSUM; FATAL OUTCOME; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; HYPERBILIRUBINEMIA; ICHTHYOSIS; INFANT; KIDNEY DISEASES; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; RENAL AMINOACIDURIAS; SYNDROME;

EID: 33344477090     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.10.005     Document Type: Article

References (9)

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