Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
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DOI: 10.1186/s12920-022-01226-8
Abstract: Background Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications… read more here.
Keywords: osteodysplastic primordial; dwarfism; mopd type; microcephalic osteodysplastic ... See more keywords