Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
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P. Hedvičáková | P. Seeman | J. Zamecnik | M. Krůtová | J. Haberlová | J. Schwabova | F. Fencl | L. Hornofová | B. Petrák | D. Brožková | M. Mojžíšová | K. Pavlíčková | L. Mrázková | M. Kaluzova | M. Krutova | J. Haberlova