Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene

Case series Patients: Female, 17-year-old • Female, 49-year-old Final Diagnosis: Ververi-Brady syndrome Symptoms: Cognitive impairment • epilepsy • epileptic seizure • facial dysmorphism • short stature Clinical Procedure: — Specialty: Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BA...

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Detalles Bibliográficos
Autores principales: Roddate, Marija, Tauriņa, Gita, Krutovs, Vladimirs, Rots, Dmitrijs, Kēniņa, Viktorija
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215998/
https://www.ncbi.nlm.nih.gov/pubmed/37211757
http://dx.doi.org/10.12659/AJCR.939217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215998/
https://www.ncbi.nlm.nih.gov/pubmed/37211757
http://dx.doi.org/10.12659/AJCR.939217

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