Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Author:
Funder
Ministerio de Ciencia e Innovación
Fondazione Marche
Beatrice and Samuel A. Seaver Foundation
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
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1. Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report;Journal of Medical Case Reports;2024-09-05
2. Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome;Translational Psychiatry;2024-07-25
3. Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-06-17
4. Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome;European Journal of Human Genetics;2024-02-29
5. Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome;2024-01-31
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