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- Title
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
- Authors
Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J; Halevy, Ayelet; Rechavi, Gideon; Shohat, Mordechai; Straussberg, Rachel; Basel-Vanagaite, Lina
- Abstract
This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death, and the identification of a gene involved in the pathogenesis of the disease.
- Publication
Journal of medical genetics, 2011, Vol 48, Issue 6, p383
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2010.087114