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Truncating loss-of-function mutations ofDISP1contribute to holoprosencephaly-like microform features in humans

✍ Scribed by Erich Roessler; Yong Ma; Maia V. Ouspenskaia; Felicitas Lacbawan; Claude Bendavid; Christèle Dubourg; Philip A. Beachy; Maximilian Muenke

Book ID
106134808
Publisher
Springer
Year
2009
Tongue
English
Weight
336 KB
Volume
125
Category
Article
ISSN
0340-6717

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Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that com