Year: 2024
Type: article
Abstract: Takenouchi–Kosaki syndrome (TKS; OMIM #616737) is an autosomal dominant disorder first described in 2015, characterized by multisystem involvement. Affected individuals may exhibit developmental delay, macrothrombocytopenia, lymphedema, camptodactyly, and unique facial features [1,2]. TKS is linked to heterozygous gain-of-function variants in the cell division control protein 42 homolog (CDC42) gene [2]. Cardiovascular issues, including transposition of the great arteries, septal defects, patent ductus arteriosus (PDA), and pulmonary stenosis (PS), have also been documented [3].
Source: Pediatrics & Neonatology
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4405842151