SALL1 mutations in Townes-Brocks syndrome and related disorders
✍ Scribed by Jürgen Kohlhase
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 206 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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## Abstract This is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes‐Brocks syndrome, although the present patien
Here we report on a 3-year-old boy with full-blown TBS and two rare features, Duane anomaly (DA) and somatic mosaicism for the causative SALL1 mutation. This boy is the third child of non-consanguineous parents and he was born at 39 þ6 weeks gestation as the second child of a dizygotic twin pregnan
However, these patients did not have ear anomalies, anal lesions, or deafness suggestive of TBS or PS. Because PS is thought to be heterogeneous, the occurrence of the two syndromes together may constitute a contiguous gene syndrome in this particular case.