EVERY FAMILY BELONGS
A focused reading list for families, educators and clinicians. Research describes groups; it does not predict every individual’s course.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
The original report connecting particular PPM1D variants with a neurodevelopmental syndrome.
Read the paper (external)Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
A study of 37 individuals from 34 families documents clinical variation, including developmental and gastrointestinal features.
Read the abstract (external)Read the full text (external)Albert Einstein College of Medicine describes Dr. Herbert Lachman’s work using patient-derived stem cells to investigate JdVS and related neurodevelopmental conditions. Laboratory work is distinct from an established treatment.
Read Einstein’s research overview (external)Last reviewed September 30, 2026. This is a selected bibliography, not an exhaustive or automatically updated database.