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Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome
(Nature Publishing Group, 2017)
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ...
Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome
(Cell Press, 2012)
The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ...