Article
KBG Syndrome in 16 Indian Individuals.
American journal of medical genetics. Part A - 1 Feb 2025
Bajaj Shruti, Nampoothiri Sheela, Chugh Roshni, Sheth Jayesh, Sheth Frenny, Sheth Harsh, Narayan Vinu, Deshpande Ameya, Hegde Anaita, Dwivedi Aradhana, Yeshodharan Dhanya, Khosla Indu, Mittal Madhukar, Kore Mahesh, Ramprasad Vedam, C Anbu Kayalvizhi, Girisha Katta M
Abstract excerpt
We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent...
Topics
- Humans
- Male
- Female
- Intellectual Disability
- Abnormalities, Multiple
- Child
- India
- Child, Preschool
- Adolescent
- Repressor Proteins
- Facies
- Phenotype
- Polymorphism, Single Nucleotide