Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

British Journal of Dermatology

Volumn 166, Issue 6, 2012, Pages 1309-1313

  Arnold, A W ^a,b   Bruckner Tuderman, L ^a   Has, C ^a   Happle, R ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; EDETIC ACID;

ARTICLE; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHILD; COMPARATIVE STUDY; DNA DETERMINATION; ERYTHEMA; EXON; GENE AMPLIFICATION; GENETIC CODE; GENETIC DIFFERENCE; GENETIC VARIABILITY; HUMAN; MALE; MALE EMOPAMIL BINDING PROTEIN DISORDER WITH NEUROLOGICAL DEFECT; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME RECESSIVE DISORDER;

ABBREVIATIONS AS TOPIC; CHILD; CHONDRODYSPLASIA PUNCTATA; CODON, NONSENSE; DIAGNOSIS, DIFFERENTIAL; DNA, COMPLEMENTARY; GENETIC DISEASES, X-LINKED; HUMANS; MALE; NERVOUS SYSTEM DISEASES; PEDIGREE; PHENOTYPE; STEROID ISOMERASES; SYNDROME;

EID: 84861604512     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.10808.x     Document Type: Article

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