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2. Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital. Ritter AL; McDougall C; Skraban C; Medne L; Bedoukian EC; Asher SB; Balciuniene J; Campbell CD; Baker SW; Denenberg EH; Mazzola S; Fiordaliso SK; Krantz ID; Kaplan P; Ierardi-Curto L; Santani AB; Zackai EH; Izumi K Am J Med Genet A; 2018 Sep; 176(9):1890-1896. PubMed ID: 30152016 [TBL] [Abstract][Full Text] [Related]
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19. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. Gumus E Eur J Med Genet; 2020 Jan; 63(1):103637. PubMed ID: 30858058 [TBL] [Abstract][Full Text] [Related]