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Phenotypic and genotypic variability in Alpers syndrome

✍ Scribed by Kalliopi Sofou; Ali-Reza Moslemi; Gittan Kollberg; Ingibjörg Bjarnadóttir; Anders Oldfors; Inger Nennesmo; Elisabeth Holme; Már Tulinius; Niklas Darin


Book ID
113590699
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
764 KB
Volume
16
Category
Article
ISSN
1090-3798

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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 👁 2 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