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Association between biomarkers of ovarian reserve and infertility among older women of reproductive age

Individuals with ARTHS present with developmental delay, cognitive impairment (100% penetrance), delay or absence of speech (100%), facial dysmorphism (85%), feeding difficulties (78%), and neonatal hypotonia (76%) in a study of 76 individuals with KAT6A mutations (Kennedy et al, 2019)

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A 70-year-old woman with cerebrovascular and peripheral vascular disease presents to the emergency department for further evaluation of worsening abdominal pain and weight loss