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Primordial dwarfism: overview of clinical and genetic aspects
(Springer Verlag, 2016)
Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver?Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier?Gorlin Syndrome. This genetic disorder ...
Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management
(SciTechnol, 2016)
Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase ...