Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity

Congenital anomalies present significant health challenges globally, affecting millions of children and contributing to mortality, morbidity, and disability. The immediate health needs of a fetus/neonate diagnosed with a congenital anomaly can overshadow discussions about future reproductive risks. This review explores the broad landscape of recurrence risks in common congenital anomalies and summarizes the implications for parental counseling.

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Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity

Cited by 3 publications

References 81 publications

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Exposing, Reversing, and Inheriting Crimes as Traumas from the Neurosciences to Epigenetics: Why Criminal Law Cannot Yet Afford A(nother) Biology-induced Overhaul

Recurrence Risks in Congenital Anomalies: A Comprehensive Guide for Parental Counseling

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