Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Background and objectives: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. Desig...

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Bibliografiset tiedot
Päätekijät: Roberts, E, Hampshire, D, Pattison, L, Springell, K, Jafri, H, Corry, P, Mannon, J, Rashid, Y, Crow, Y, Bond, J, Woods, C
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2002
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734986/
https://ncbi.nlm.nih.gov/pubmed/12362027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.10.718
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