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Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2011, Volume 19, Issue 6, pp. 647 - 654
Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as... 
prelamin A | mandibuloacral dysplasia | secondary laminopathies | congenital myopathy | ZMPSTE24 | LMNA MUTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCULAR-DYSTROPHY | PHENOTYPE | RESTRICTIVE DERMOPATHY | PROGERIA-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | PRELAMIN-A | LAMIN A/C | ZMPSTE24-DEFICIENT MICE | Metalloendopeptidases - genetics | Myopathies, Structural, Congenital - physiopathology | Humans | Molecular Sequence Data | Metalloendopeptidases - metabolism | Myopathies, Structural, Congenital - genetics | Acro-Osteolysis - genetics | Mutation, Missense | Myopathies, Structural, Congenital - complications | Muscular Dystrophies - genetics | Progeria - physiopathology | Mandible - physiopathology | Fibroblasts | Adult | Female | Lipodystrophy - physiopathology | Membrane Proteins - metabolism | Cell Culture Techniques | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Mandible - abnormalities | Amino Acid Sequence | Protein Precursors - genetics | Membrane Proteins - genetics | Nuclear Proteins - metabolism | Lamin Type A - metabolism | Muscular Dystrophies - complications | Progeria - genetics | Abnormalities, Multiple - physiopathology | Acro-Osteolysis - complications | Lipodystrophy - complications | Protein Precursors - metabolism | Lipodystrophy - genetics | Homozygote | Phenotype | Acro-Osteolysis - physiopathology | Lamin Type A - genetics | Heterozygote | Mutation | Progeria - complications | Muscular Dystrophies - physiopathology | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2013, Volume 161A, Issue 2, pp. 360 - 370
In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and... 
acro‐osteolysis | Singleton–Merten syndrome | glaucoma | psoriasis | aortic calcification | dental abnormalities | autosomal dominant | short dental roots | Autosomal dominant | Glaucoma | Acro-osteolysis | Aortic calcification | Psoriasis | Dental abnormalities | Singleton-Merten syndrome | Short dental roots | ASCENDING AORTA | acro-osteolysis | VASCULAR CALCIFICATION | VALVE | IDIOPATHIC CALCIFICATION | GENETICS & HEREDITY | YOUNG WOMAN | Aortic Diseases - diagnostic imaging | Humans | Vascular Calcification - genetics | Aortic Diseases - mortality | Child, Preschool | Vascular Calcification - diagnostic imaging | Infant | Male | Metacarpus - abnormalities | Tooth Loss - genetics | Odontodysplasia - mortality | Psoriasis - genetics | Genes, Dominant | Skull - pathology | Osteoporosis - diagnostic imaging | Vascular Calcification - mortality | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | Dental Enamel Hypoplasia - diagnostic imaging | Abnormalities, Multiple - genetics | Osteoporosis - mortality | Metacarpus - diagnostic imaging | Myocardium - pathology | Radiography | Aortic Diseases - genetics | Phenotype | Skull - diagnostic imaging | Dental Enamel Hypoplasia - mortality | Muscular Diseases - mortality | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Muscular Diseases - diagnostic imaging | Medical colleges | Valves | Children's hospitals | Index Medicus | Aorta
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2015, Volume 88, Issue 6, pp. 531 - 531
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 8, pp. 1220 - 1222
Journal Article
Clinical and Experimental Dermatology, ISSN 0307-6938, 03/2016, Volume 41, Issue 2, pp. 190 - 195
BackgroundPapillon-Lefevre syndrome (PLS; OMIM 245000) and Haim-Munk syndromes (HMS; OMIM 245010) are phenotypic variants of the same rare disease caused by... 
SERINE PROTEASES | KERATOSIS | CATHEPSIN-C GENE | PAPILLON-LEFEVRE-SYNDROME | IDENTIFICATION | ALLELIC MUTATIONS | HAIM-MUNK-SYNDROME | DERMATOLOGY | Phenotype | Humans | Cathepsin C - genetics | Papillon-Lefevre Disease - genetics | Adult | Female | Genotype | Male | Acro-Osteolysis - genetics | Codon, Nonsense | Analysis | Genes | Genetic research | Cathepsins | Genetic aspects | Genetic polymorphisms | Index Medicus
Journal Article