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A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

AuthorsJohanna Christina Czeschik, Beate Albrecht, Hülya Kayserili, Alma Kuechler, Nicholas Wagner, Dagmar Wieczorek, Hermann-Josef Lüdecke
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 23 Issue 2 Pg. 67-70 (Apr 2014) ISSN: 1473-5717 [Electronic] England
PMID24561647 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 3 (genetics)
  • Developmental Disabilities (genetics, physiopathology)
  • Female
  • Humans
  • Mutation
  • Rubinstein-Taybi Syndrome (etiology, genetics, physiopathology)

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