RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.


Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized growth deficiency (microcephalic primordial dwarfism), but… (More)
DOI: 10.1016/j.ajhg.2015.10.012


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