Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hünermann-Happle syndrome associated with a novel EBP mutation

Archives of Dermatology

Volumn 147, Issue 9, 2011, Pages 1073-1076

  Morice Picard, Fanny ^a   Kostrzewa, Elise ^a   Wolf, Claude ^b   Benlian, Pascale ^c   Taïeb, Alain ^a   Lacombe, Didier ^a  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIV LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXYSTEROL DELTA8, DELTA7 ISOMERASE; ARGININE; BINDING PROTEIN; CYSTEINE; EMOPAMIL BINDING PROTEIN; GENOMIC DNA; STEROID DELTA ISOMERASE; UNCLASSIFIED DRUG;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHILD; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DISEASE TRANSMISSION; DNA EXTRACTION; EBP GENE; ERYTHEMA; ERYTHRODERMA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEARING LOSS; HETEROZYGOSITY; HUMAN; ICHTHYOSIS; LYMPHOCYTE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; X CHROMOSOME LINKAGE;

EID: 80053081872     PISSN: 0003987X     EISSN: 15383652     Source Type: Journal    
DOI: 10.1001/archdermatol.2011.230     Document Type: Article

References (14)

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