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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Autores principales: Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Article
Acceso en línea: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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