LADD syndrome with glaucoma is caused by a novel gene

PURPOSE: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder displaying variable expression of multiple congenital anomalies including hypoplasia or aplasia of the lacrimal and salivary systems causing abnormal tearing and dry mouth. Mutations in the FGF10, FGFR2, and FG...

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發表在:Mol Vis
Main Authors: Simpson, Allie, Avdic, Armin, Roos, Ben R., DeLuca, Adam, Miller, Kathy, Schnieders, Michael J., Scheetz, Todd E., Alward, Wallace L.M., Fingert, John H.
格式: Artigo
語言:Inglês
出版: Molecular Vision 2017
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5373035/
https://ncbi.nlm.nih.gov/pubmed/28400699
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