Discordance for retinitis pigmentosa in two monozygotic twin pairs

Retina

Volumn 31, Issue 6, 2011, Pages 1164-1169

  Berghmans, Lieve V ^a   De Mendonça, Regina Halfeld Furtado ^b   Coppieters, Frauke ^a   De Oliveira Maia Júnior, Otacílio ^b   Takahashi, Walter Yukihiko ^b   Lissens, Willy ^c   De Baere, Elfride ^a   Leroy, Bart P ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

Discordance; identical twin; lyonization; monozygotic twin; phenotypical discordance; postzygotic gene mutation; retinal dystrophy; retinitis pigmentosa; uniparental isodisomy; X chromosomeinactivation

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; RETINITIS PIGMENTOSA; TWIN DISCORDANCE; TWIN ZYGOSITY; X CHROMOSOME INACTIVATION;

ADULT; DISEASES IN TWINS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; TWINS, MONOZYGOTIC; VISUAL ACUITY; VISUAL FIELDS; X CHROMOSOME INACTIVATION;

EID: 79958251363     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0b013e3181fbcf2b     Document Type: Article

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