Article
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Human molecular genetics - 15 Dec 2008
Domené Sabina, Roessler Erich, El-Jaick Kenia B, Snir Mirit, Brown Jamie L, Vélez Jorge I, Bale Sherri, Lacbawan Felicitas, Muenke Maximilian, Feldman Benjamin
Abstract excerpt
Holoprosencephaly (HPE) is the most common developmental anomaly of the human forebrain; however, the genetics of this heterogeneous and etiologically complex malformation is incompletely understood. Heterozygous mutations in SIX3, a transcription factor gene expressed in the anterior forebrain and eyes during early vertebrate development, have been frequently detected in human HPE cases. However, only a few...
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