Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report
Author:
Publisher
Baishideng Publishing Group Inc.
Subject
General Medicine
Reference22 articles.
1. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
2. Sonic hedgehog: restricted expression and limb dysmorphologies
3. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
4. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome
5. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Prenatal diagnosis and genetic counselling of a maternally inherited chromosome 7q36.3 duplication with normal phenotype in a Chinese family;Taiwanese Journal of Obstetrics and Gynecology;2024-03
2. Wassel VI Thumb Duplication With Triphalangeal Radial and Ulnar Thumbs: Anatomy and Surgical Reconstruction;HAND;2023-11-02
3. Surgical Reconstruction for the Triphalangeal Thumb;Plastic and Reconstructive Surgery - Global Open;2023-11
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