A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome
Hur DJ, Raymond GV, Kahler SG, Riegert‐Johnson D, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome. American Journal Of Medical Genetics Part A 2005, 135A: 36-40. PMID: 15810001, DOI: 10.1002/ajmg.a.30680.Peer-Reviewed Original ResearchConceptsKeutel syndromeMatrix Gla protein geneOptic nerve atrophyRare autosomal recessive conditionMid-dermal elastolysisFunction mutationsBone morphogenetic protein-2Autosomal recessive conditionConsanguineous Arab familyAbnormal cartilage calcificationNerve atrophyAbnormal calcificationCardinal featuresCalcification inhibitorsWhite matterClinical phenotypeTypical manifestationsRecessive conditionSoft tissueExtracellular matrix proteinsAffected individualsCartilage calcificationProtein 2Consanguineous familyConsensus donor splice site