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Townes-Brocks syndrome and renal dysplasia: a novel mutation in theSALL1gene

✍ Scribed by A. Salerno; J. Kohlhase; B. S. Kaplan


Publisher
Springer
Year
2000
Tongue
English
Weight
147 KB
Volume
14
Category
Article
ISSN
0931-041X

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SALL1 mutation analysis in Townes-Brocks
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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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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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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