2008
NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone
Bergwitz C, Bastepe M. NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone. New England Journal Of Medicine 2008, 359: 2615-2617. PMID: 19073985, DOI: 10.1056/nejmc086284.Peer-Reviewed Original Research
2001
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
Bergwitz C, Prochnau A, Mayr B, Kramer F, Rittierodt M, Berten H, Hausamen J, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. Journal Of Inherited Metabolic Disease 2001, 24: 648-656. PMID: 11768584, DOI: 10.1023/a:1012758925617.Peer-Reviewed Original ResearchConceptsCleidocranial dysplasiaPatient's leukocyte DNADelayed tooth eruptionBsmI restriction siteHealthy family membersRUNX2 mutationAberrant amino acidsClavicular dysplasiaPatent fontanelsCore-binding factor a1Haplotype insufficiencyTooth budsTooth eruptionShort statureBone densityLeukocyte DNAIncreased riskGrowth retardationRestriction sitesDistal phalanxNucleotide changesDysplasiaPremature stopFrameshift mutationHealthy members