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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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Bibliografische gegevens
Hoofdauteurs: Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Online toegang: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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