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Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

BACKGROUND: Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION: A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly,...

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Detalles Bibliográficos
Autores principales: Brooks, Brian P, Meck, Jeanne M, Haddad, Bassem R, Bendavid, Claude, Blain, Delphine, Toretsky, Jeffrey A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1379634/
https://www.ncbi.nlm.nih.gov/pubmed/16412230
http://dx.doi.org/10.1186/1471-2350-7-2