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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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Phenotypic variability in Townes-Brocks
✍ de Pina-Neto, João Monteiro ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB 👁 1 views

## 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

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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

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✍ Yano, Shoji; Watanabe, Yoriko; Yoshino, Makoto; Aida, Katsumaro; Kato, Hirohisa 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views

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.