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Results 1 - 6 of 6 for Teebi hypertelorism syndrome 2
  1. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features ...
  2. ... Registry: X-linked Opitz G/BBB syndrome 22q11.2 deletion syndrome Opitz GBBB syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov TEEBI HYPERTELORISM SYNDROME 1; TBHS1 OPITZ GBBB SYNDROME; GBBB PubMed ...
  3. ... condition. More About This Health Condition At least two mutations in the TWIST1 gene have been found ... Am J Med Genet. 2002 Jun 15;110(2):136-43. doi: 10.1002/ajmg.10400. Citation ...
  4. ... the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is ...
  5. ... Am J Med Genet. 2002 Jun 15;110(2):136-43. doi: 10.1002/ajmg.10400. Citation ... hydrogen bonds. Orthod Craniofac Res. 2007 May;10(2):67-81. doi: 10.1111/j.1601-6343. ...
  6. ... disomy (UPD). UPD occurs when a person receives two copies of a chromosome, or part of a ... others. Taiwan J Obstet Gynecol. 2007 Jun;46(2):111-20. doi: 10.1016/S1028-4559(07) ...