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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,...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2006
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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 |