A Chilean boy with severe photosensitivity and finger shortening: The first case of homozygous variegate porphyria in South America

British Journal of Dermatology

Volumn 154, Issue 2, 2006, Pages 368-371

  Poblete Gutierrez P ^a   Wolff, C ^b   Farias, R ^c   Frank, J ^a,d  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CHILE   (Chile)

^c HOSPITAL SAN JUAN DE DIOS   (Chile)

^d UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Haem biosynthesis; Homozygous variegate porphyria; Photosensitivity; Porphyria; Protoporphyrinogen oxidase; Variegate porphyria

Indexed keywords

ARTICLE; CASE REPORT; CHILE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; FINGER MALFORMATION; HOMOZYGOSITY; HUMAN; LABORATORY DIAGNOSIS; LABORATORY TEST; MALE; MOLECULAR GENETICS; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CHILE; DNA MUTATIONAL ANALYSIS; FINGERS; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PHOTOSENSITIVITY DISORDERS; PIGMENTATION DISORDERS; PORPHYRIA, VARIEGATE; PROTOPORPHYRINOGEN OXIDASE; PROTOPORPHYRINS;

EID: 33644930561     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06978.x     Document Type: Article

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