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Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. MCPH is genetically heterogeneous with six known loci: MCPH1–MCPH6. We report mapping of a novel locus, MCPH7, to chromosome 1p32.3–p33 between markers D1...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2668020/ https://ncbi.nlm.nih.gov/pubmed/19215732 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.01.017 |
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