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- The OMMBID Blog » archive for May, 2008
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Transaldolase deficiency
- May 21st, 2008
Mol Genet Metab. 2008 Jun;94(2):255-8. Epub 2008 Mar 10.
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT.
In this brief communication, the authors describe a new patient with transaldolase deficiency, with hematological, renal and hepatic manifestations. They also review previously reported cases of this recently described condition.
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Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
Involvement of Bardet-Biedl proteins in neural crest cell migration
- May 6th, 2008
Proc Natl Acad Sci U S A. 2008 Apr 28 [Epub ahead of print]
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome.
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL.In this publication, the authors combine data from facial dysmorphology modeling, with experiments in mice and zebrafish to demonstrate their hypothesis that the proteins mutated in Bardet-Biedl syndrome are involved in neural crest cell migration.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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