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PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect

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In this paper, we present the first characterization of the GST gene family in citrus and provide insights on the role of some GSTs in two different cultivars, Cadenera and Moro, which show different phenotypic traits of the fruit in terms of pigmentation

The age of onset is earlier in men than in women and men are more prone to spinal involvement, whereas bulbar involvement is more common in women (McCombe and Henderson, 2010)