Townes-Brocks syndrome
Definition:
References:
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[1]. Bryn D Webb, et al. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Hum Mutat. 2017 Apr;38(4):373-377. [Content Brief]
[2]. C E Keegan, et al. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 2001 Jul-Aug;3(4):310-3. [Content Brief]
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