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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

✍ Scribed by Jürgen Kohlhase; Peter E.M. Taschner; Peter Burfeind; Bastian Pasche; Bill Newman; Christopher Blanck; Martijn H. Breuning; Leo P. ten Kate; Petra Maaswinkel-Mooy; Beate Mitulla; Jörg Seidel; Susan J. Kirkpatrick; Richard M. Pauli; David S. Wargowski; Koen Devriendt; Willem Proesmans; Orazio Gabrielli; Giovanni V. Coppa; Eveline Wesby–van Swaay; Richard C. Trembath; Albert A. Schinzel; William Reardon; Eva Seemanova; Wolfgang Engel

Book ID
117852708
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
628 KB
Volume
64
Category
Article
ISSN
0002-9297

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SALL1 mutation analysis in Townes-Brocks
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
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Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster. T

Townes-Brocks syndrome: twenty novel SAL
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
✍ Elke M. Botzenhart; Gabriella Bartalini; Edward Blair; Angela F. Brady; Frances 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB

Townes-Brocks syndrome (TBS) is an autosomal dominant malformation syndrome characterized by renal, anal, ear, and thumb anomalies caused by SALL1 mutations. To date, 36 SALL1 mutations have been described in TBS patients. All but three of those, namely p.R276X, p.S372X, and c.1404dupG, have been fo