Recent Studies from University of California San Francisco (UCSF) Add New Data to Pain and Central Nervous System (Biallelic otud6b Variants Associated With a Kabuki Syndrome-like Disorder In Three Siblings: a Clinical Report and...).

Předmět:	CENTRAL nervous system SIBLINGS MEDICAL genetics MEDICAL periodicals
Zdroj:	Pain & Central Nervous System Week; 4/5/2024, p698-698, 1p
Abstrakt:	A recent study from the University of California San Francisco (UCSF) has identified biallelic variants in the OTUD6B gene that are associated with a Kabuki syndrome-like disorder in three siblings. The disorder is characterized by neurodevelopmental delay, physical differences, and other clinical findings. The study expands the understanding of the phenotype associated with OTUD6B and provides an update on the current information related to this gene-disease association. The research was supported by the National Institutes of Health (NIH) in the United States. [Extracted from the article]
Databáze:	Complementary Index
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