Article
Three new patients with FATCO: fibular agenesis with ectrodactyly.
American journal of medical genetics. Part A - 1 Jul 2012
Bieganski Tadeusz, Jamsheer Aleksander, Sowinska Anna, Baranska Dobromila, Niedzielski Kryspin, Kozlowski Kazimierz, Czarny-Ratajczak Malwina
Abstract excerpt
We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype "fibular aplasia with ectrodactyly." Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show...
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