Two novel EBP mutations in Conradi-Hünermann-Happle syndrome

European Journal of Dermatology

Volumn 18, Issue 4, 2008, Pages 391-393

  Ausavarat, Surasawadee ^a,b   Tanpaiboon, Pranoot ^c   Tongkobpetch, Siraprapa ^a   Suphapeetiporn, Kanya ^a   Shotelersuk, Vorasuk ^a  

^a KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^b CHULALONGKORN UNIVERSITY   (Thailand)

^c Faculty of Medicine Chiang Mai University   (Thailand)

Author keywords

Chondrodysplasia punctata type 2; Conradi H nermann Happle; EBP

Indexed keywords

BINDING PROTEIN; EMOPAMIL BINDING PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHONDRODYSPLASIA PUNCTATA TYPE 2; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; POLYMERASE CHAIN REACTION; THAILAND;

EID: 47749112385     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: 10.1684/ejd.2008.0433     Document Type: Article

References (14)

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