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Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.10.006
Abstract: Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness,…
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Keywords:
winter syndrome;
baraitser;
baraitser winter;
new ocular ... See more keywords