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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.[1]

References

  1. The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Kavaslar, G.N., Onengüt, S., Derman, O., Kaya, A., Tolun, A. Am. J. Hum. Genet. (2000) [Pubmed]
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