Mutations in PAX3 associated with waardenburg syndrome type I
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
2. undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1
3. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
4. Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila
5. Conservation of the paired domain in metazoans and its structure in three isolated human genes.
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2. A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I;World Journal of Pediatrics;2023-09-14
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