Familial Congenital Bilateral Vocal Fold Paralysis - A Novel Gene Translocation

Characterization of a familial t(16;22)

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

✍ Robyn V. Jamieson; Nicola Farrar; Katrina Stewart; Rahat Perveen; Marija Mihelec 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB 👁 1 views

## Communicated by Jurgen Horst Molecular characterization of chromosomal rearrangements is a powerful resource in identification of genes associated with monogenic disorders. We describe the molecular characterization of a balanced familial chromosomal translocation, t(16;22)(p13.3;q11.2), segreg