Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement
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A. Munnich | N. Boddaert | A. Rötig | M. Rio | Metodi D. Metodiev | Benedetta Ruzzenente | Juliette Pulman | Lucas Bianchi | J. Pulman