Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
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H. Maegawa | A. Kashiwagi | T. Kaname | K. Yanagi | K. Ohkubo | Kunihisa Kobayashi | Y. Tajiri | S. Ugi | H. Sasaki | Kumiko Ohkubo