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Microcephalic primordial dwarfism
Did you mean microcephaly primordial dwarfism?
- ... the PCNT gene have been found to cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII). These mutations result in the ... gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. ...
- ... largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011 Feb ...
- ... Wilson syndrome, a condition characterized by short stature (dwarfism) and other skeletal abnormalities. The mutations change single ... disability, seizures, and an unusually small head size (microcephaly). Mutations in the COG4 gene that cause COG4- ...