Dr. Herbert Lachman, a scientist at the Albert Einstein College of Medicine, and a JdVS Medical Advisory Board Member is one of the first researchers to use iPS cells to study neurodevelopmental disorders. He is also one of the first to use a gene editing tool called CRISPR to introduce IDD and autism mutations into…
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Recommendations for Educators Teaching a student with JdVS is truly a once in a lifetime experience. A good team of specialists and educators will be essential when moving forward with academic goals for the student. In the classroom is important to remember that you will see a full range of emotions from a student with…
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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
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Other names: PPM1D, IDDGIP Small hands and feet Hypoplastic nails Short stature Broad forehead Low-set posteriorly rotated ears Upturned nose Broad mouth with thin upper lip Expressive eyes and high arching eyebrows
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