Fabry's disease: Heterozygous form of different expression in two monozygous twin sisters

Dermatology

Volumn 187, Issue 1, 1993, Pages 9-15

  Marguery, M C ^a   Giordano, F ^a   Parant, M ^a   Samalens, G ^a   Levade, T ^a   Salvayre, R ^a   Maret, A ^a   Calvas, P ^a   Bourrouillou, G ^a   Cantala, P ^a   Bazex, J ^a  

^a CHU PURPAN   (France)

Author keywords

Fabry's disease; Heterozygous form; Monozygous twin sisters; Variable phenotypic expression

Indexed keywords

ADULT; ARTICLE; CASE REPORT; EYE DISEASE; FABRY DISEASE; FEMALE; HEMANGIOKERATOMA; HETEROZYGOSITY; HUMAN; KIDNEY DISEASE; MONOZYGOTIC TWINS; PARESTHESIA; PHENOTYPE; PRIORITY JOURNAL; SPONTANEOUS MUTATION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

EID: 0027300292     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000247189     Document Type: Article

References (0)