A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami

Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 (LARP7) gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial feat...

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Detalles Bibliográficos
Autores principales: Fauntleroy-Love, Kristin D., Wilson, Theodore E., Padem, Nurcicek, Golomb, Meredith R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Topical Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388622/
https://www.ncbi.nlm.nih.gov/pubmed/37529055
http://dx.doi.org/10.1177/2329048X231190784

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388622/
https://www.ncbi.nlm.nih.gov/pubmed/37529055
http://dx.doi.org/10.1177/2329048X231190784

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