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Cleveland clinic study clarifies genetic autism risk in PTEN patients

19:00 EST 30 Jan 2020 | AAAS

(Cleveland Clinic) Cleveland Clinic researchers have identified for the first time an explanation of why patients with identical PTEN mutations often have vastly different clinical presentations. In a new study published in JAMA Network Open, a team of researchers led by Charis Eng, MD, PhD, discovered that copy number variations may act as genomic modifiers that influence the risk of autism spectrum disorder and/or developmental delay versus cancer risk in individuals with PTEN mutations.

Original Article: Cleveland clinic study clarifies genetic autism risk in PTEN patients

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