Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hunermann-Happle syndrome

Clinical and Experimental Dermatology

Volumn 30, Issue 4, 2005, Pages 419-421

  Shotelersuk, V ^a   Tongkobpetch, S ^a  

^a CHULALONGKORN UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; DNA; EMOPAMIL; EMOPAMIL BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BONE DYSPLASIA; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CATARACT; CONRADI HUENERMANN HAPPLE SYNDROME; DISEASE SEVERITY; EBP GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; ICHTHYOSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN DISEASE; SYNDROME DELINEATION; X CHROMOSOME LINKED DISORDER; X LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA;

BASE SEQUENCE; CARRIER PROTEINS; CHONDRODYSPLASIA PUNCTATA; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; STEROID ISOMERASES; SYNDROME;

EID: 20644471621     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01775.x     Document Type: Article

References (10)

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