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  • Karen W. Gripp, Cynthia J. R. Curry, +7 authors Katia Sol-Church
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2014 (First Publication: 1 September 2014)
  • Patients with physical findings suggestive of Treacher Collins syndrome (TCS) or mandibulofacial dysostosis (MFD) and macrocytic anemia diagnostic of Diamond-Blackfan anemia (DBA) have been reported.Continue Reading
  • Angela Myers, Jonathan A. Bernstein, +10 authors Louanne Hudgins
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2014 (First Publication: 1 November 2014)
  • The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, theContinue Reading
  • Annika M Svensson, Cynthia J. R. Curry, +8 authors Arthur R. Brothman
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2007 (First Publication: 15 June 2007)
  • We describe the cytogenetic diagnosis using BAC- and oligonucleotide microarrays of a 16-year-old Laotian-American female, who first presented at 2 1/2 years of age with microcephaly, developmentalContinue Reading