نتایج جستجو برای: mowat syndrome
تعداد نتایج: 621961 فیلتر نتایج به سال:
Mowat-Wilson syndrome (MWS) is a rare autosomal dominant characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the <i>ZEB2</i> gene. Here, we report on an Egyptian patient diagnosed chromosomal microarray (CMA). A 1-year-old male child was referred to CHD clinic, Nati...
The transcription factor Sip1 (Zeb2) plays multiple roles during CNS development from early acquisition of neural fate to cortical neurogenesis and gliogenesis. In humans, SIP1 (ZEB2) haploinsufficiency leads to Mowat-Wilson syndrome, a complex congenital anomaly including intellectual disability, epilepsy and Hirschsprung disease. Here we uncover the role of Sip1 in retinogenesis. Somatic dele...
David Mowat, the health minister, raised a few eyebrows earlier this year when he said that people had the same duty to look after their ageing parents as they did to look after their children. Mowat, who was giving evidence to the communities and local government select committee, acknowledged the current problems in the care system and its future sustainability. He then added, “No one ever qu...
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