Researchers from Universidad de La Sabana Discuss Findings in Neonatology (Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment - A Case Report).

Předmět:	GENETIC counseling NEWSPAPER editors WILLIAMS syndrome DEVELOPMENTAL delay GENETIC testing
Zdroj:	Genomics & Genetics Weekly; 9/13/2024, p1831-1831, 1p
Abstrakt:	Researchers from the Universidad de La Sabana have published a report on a rare disease called Radio-Tartaglia syndrome (RATARS). This syndrome is caused by a mutation in the SPEN gene on the 1p36 chromosome. It is characterized by global developmental delay and intellectual disability, and can also be associated with other comorbidities affecting various systems in the body. The researchers emphasize the importance of genetic testing in diagnosing RATARS, as it can be easily misdiagnosed. This case report highlights the need for further investigation and confirms the value of exome sequencing in diagnosing rare diseases like RATARS. [Extracted from the article]
Databáze:	Complementary Index
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