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2 in total

1. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Authors: Davut Pehlivan; Ender Karaca; Hatip Aydin; Christine R Beck; Tomasz Gambin; Donna M Muzny; B Bilge Geckinli; Ali Karaman; Shalini N Jhangiani; Richard A Gibbs; James R Lupski
Journal: Eur J Hum Genet Date: 2014-01-15 Impact factor: 4.246

2. Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Authors: Jennifer A F Tender; Carlos R Ferreira
Journal: Transl Sci Rare Dis Date: 2018-04-13

2 in total