Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene x gene interactions

• Published in: Molecular genetics and metabolism Vol. 105; no. 4; pp. 658 - 664
• Main Authors: Roessler, Erich, Vélez, Jorge I., Zhou, Nan, Muenke, Maximilian
• Format: Journal Article
• Language: English
• Published: 01.04.2012

Clinical molecular diagnostic centers routinely screen SHH, ZIC2, SIX3 and TGIF for mutations that can help to explain holoprosencephaly and related brain malformations. Here we report a prospective Sanger sequence analysis of 189 unrelated probands referred to our diagnostic lab for genetic testing...