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Geleophysic dysplasia - Report on two sibs
Boy, Raquel; Llerena, Juan; Pimentel, Márcia Mattos Gonçalves; Almeida, José Carlos Cabral de.
Affiliation
  • Boy, Raquel; UERJ. Serviço de Genética Humana.
  • Llerena, Juan; FIOCRUZ. Centro de Genética Médica.
  • Pimentel, Márcia Mattos Gonçalves; UERJ. Serviço de Genética Humana.
  • Almeida, José Carlos Cabral de; FIOCRUZ. Centro de Genética Médica.
Genet. mol. biol ; 21(1): 159-62, Mar. 1998. ilus, tab
Article in English | LILACS | ID: lil-238893
Responsible library: BR26.1
RESUMO
Os autores descrevem dois novos casos de displasia Geleofísica em irmäos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda näo foi determinado.
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Full text: Available Collection: International databases Database: LILACS Main subject: Abnormalities, Multiple / Chromosome Aberrations Limits: Child / Child, preschool / Female / Humans / Male / Infant, Newborn Language: English Journal: Genet. mol. biol Journal subject: Genetics Year: 1998 Document type: Article
Fulltext
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Full text: Available Collection: International databases Database: LILACS Main subject: Abnormalities, Multiple / Chromosome Aberrations Limits: Child / Child, preschool / Female / Humans / Male / Infant, Newborn Language: English Journal: Genet. mol. biol Journal subject: Genetics Year: 1998 Document type: Article