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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

✍ Scribed by Kohlhase, Jürgen; Wischermann, Annegret; Reichenbach, Herbert; Froster, Ursula; Engel, Wolfgang

Book ID
109915018
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
534 KB
Volume
18
Category
Article
ISSN
1061-4036

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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

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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