Literature DB >> 15389708

Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature.

Francesco Morini, Maurizio Pacilli, Lewis Spitz.   

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Year:  2005        PMID: 15389708     DOI: 10.1002/ajmg.a.30283

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.

Authors:  Daniel Kelberman; Karine Rizzoti; Ariel Avilion; Maria Bitner-Glindzicz; Stefano Cianfarani; Julie Collins; W Kling Chong; Jeremy M W Kirk; John C Achermann; Richard Ross; Danielle Carmignac; Robin Lovell-Badge; Iain C A F Robinson; Mehul T Dattani
Journal:  J Clin Invest       Date:  2006-08-24       Impact factor: 14.808

  1 in total

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