Catherine E. Keegan

TL;DR: Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46%, and in female siblings of the proband.

TL;DR: This survey is the first to assess DSD clinical management practices at healthcare facilities in the United States and establishes a baseline of current practices against which providers delivering care to patients and their families can benchmark their efforts.

TL;DR: Functional interactions of a writer-eraser duo, KMT2A and KDM5C, which are responsible for Wiedemann-Steiner Syndrome (WDSTS), and mental retardation X-linked syndromic Claes-Jensen type (MRXSCJ), are shown, providing a proof of principle for balancing a single writer- eraser pair to ameliorate their associated disorders.

TL;DR: It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS), so patients with overlapping features of both syndromes should be screened for SALL1 mutations.

TL;DR: The cognitive benefit in one patient ofprotein restriction and the lack of adverse outcome in seven others restricted from birth, suggest a role for protein restriction and continued monitoring to prevent neurocognitive dysfunction.