Associated Papers
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
Choi GJ et al.
Annals of Clinical and Laboratory Science, 2020
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
van Wijk E et al.
Journal of Medical Genetics, 2003
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