Publications:

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

European Journal Of Human Genetics : Ejhg

Marconi, Caterina C; Brunamonti Binello, Paolo P; Badiali, Giovanni G; Caci, Emanuela E; Cusano, Roberto R; Garibaldi, Joseph J; Pippucci, Tommaso T; Merlini, Alberto A; Marchetti, Claudio C; Rhoden, Kerry J KJ; Galietta, Luis J V LJ; Lalatta, Faustina F; Balbi, Paolo P; Seri, Marco M

Publication Date: 2013-06

Variant appearance in text: TMD: 1295C>G

PubMed Link: 23047743

Variant Present in the following documents:

• Main text

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