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Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

Two hereditary syndromes, lymphedema-distichiasis syndrome (LD) and blepharo-chelio-dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedem...

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Detaylı Bibliyografya
Asıl Yazarlar: Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2012
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3314153/
https://ncbi.nlm.nih.gov/pubmed/22407726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35229
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