LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín, Pere; Garcia-Prat, Marina; Martín-Nalda, Andrea; Franco-Jarava, Clara; Rivière, Jacques G; Plaja, Alberto; Bezdan, Daniela; Bosio, Mattia; Martínez-Gallo, Mónica; Ossowski, Stephan; Colobran, Roger.
; 9: 2397, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30386343
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
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