Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood
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DOI: 10.1016/j.braindev.2018.04.008
Abstract: BACKGROUND Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or… read more here.
Keywords: developmental delay; childhood; patients pten; pten mutation ... See more keywords