منابع مشابه
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Recessive CRB2 mutations were recently reported to cause both steroid resistant nephrotic syndrome and prenatal onset ventriculomegaly with kidney disease. We report two Ashkenazi Jewish siblings clinically diagnosed with ciliopathy. Both presented with severe congenital hydrocephalus and mild urinary tract anomalies. One affected sibling also has lung hypoplasia and heart defects. Exome sequen...
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ژورنال
عنوان ژورنال: Mechanisms of Development
سال: 2017
ISSN: 0925-4773
DOI: 10.1016/j.mod.2017.04.035