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

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Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.

We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.[1]

References

  1. Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. Bonneau, D., Maréchaud, M., Odent, S., Piegay, I., Godard, A., Amati, P. Am. J. Med. Genet. (1999) [Pubmed]
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