Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
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DOI: 10.1016/j.ejmg.2017.11.011
Abstract: We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon… read more here.
Keywords: homozygous missense; missense mutations; spag17 wdr35; brain ... See more keywords