Article
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Journal of medical genetics - 1 Jun 2011
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 excerpt
BACKGROUND: 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. METHODS: Homozygosity mapping was performed using Affymetrix Human Mapping 250k NspI...
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