Hereditary retinoblastoma transmitted by maternal germline mosaicism

Pediatric Blood and Cancer

Volumn 51, Issue 5, 2008, Pages 598-602

  Barbosa, Raquel H ^a   Vargas, Fernando R ^a,b   Aguiar, Fernanda C C ^a   Ferman, Sima ^a   Lucena, Evandro ^a   Bonvicino, Cibele R ^a   Seuánez, Héctor N ^a,c  

^a INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^b FEDERAL UNIVERSITY OF THE STATE OF RIO DE JANEIRO   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

Genetic counselling; Hereditary retinoblastoma; Maternal germline mosaicism; RB1 mutations

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; CONCEPTION; CONTROLLED STUDY; DNA DETERMINATION; FAMILIAL CANCER; FEMALE; FERTILIZATION; GENE MUTATION; GENETIC COUNSELING; GERM LINE; HAPLOTYPE; HUMAN; MALE; MOSAICISM; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RB1 GENE; RETINOBLASTOMA; SEQUENCE ANALYSIS; SIBLING; TUMOR SUPPRESSOR GENE;

CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RETINOBLASTOMA; GENETIC COUNSELING; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; MALE; MOSAICISM; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL NEOPLASMS; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 52249119147     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21687     Document Type: Article

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