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Disruption of Ptpro Causes Childhood-Onset Nephrotic Syndrome
(Cell Press, 2011)
Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant ...
Disruption of Alx1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding The Spectrum of Autosomal-Recessive Alx-Related Frontonasal Dysplasia
(Cell Press, 2010)
We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of ...