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EN1q44 Microdeletion Syndrome
Alias:
Monosomy 1q44
Del(1)(q44)
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1q44 Microdeletion Syndrome, is also known as monosomy 1q44. An important gene associated with 1q44 Microdeletion Syndrome is HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U). Affiliated tissues include kidney and skin, and related phenotypes are agenesis of corpus callosum and hypotonia
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MALACARDS
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