Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report

OBJECTIVES: Neurodevelopmental disorders (NDDs) are a group of conditions that are clinically and etiologically heterogeneous. Biallelic variants in ACBD6 were previously reported in 7 patients with NDDs. Unfortunately, their clinical information remains very limited with descriptions of only their...

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Detalles Bibliográficos
Autores principales: Yeetong, Patra, Tanpowpong, Natthaporn, Rakwongkhachon, Supphakorn, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709716/
https://www.ncbi.nlm.nih.gov/pubmed/36457943
http://dx.doi.org/10.1212/NXG.0000000000200046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709716/
https://www.ncbi.nlm.nih.gov/pubmed/36457943
http://dx.doi.org/10.1212/NXG.0000000000200046

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