Brief report: A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 2, 2006, Pages 517-521

  Van Esch, Hilde ^a   Agarwal, Anil K ^b   Debeer, Philippe ^a   Fryns, Jean Pierre ^a   Garg, Abhimanyu ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C; METALLOPROTEINASE; UNCLASSIFIED DRUG; ZINC METALLOPROTEINASE; LMNA PROTEIN, HUMAN;

ADULT; ALOPECIA; ALTERNATIVE RNA SPLICING; ARTHROPATHY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CALCINOSIS; CASE REPORT; CATARACT; CELL NUCLEUS; CELL STRUCTURE; CLINICAL FEATURE; EXON; FEMUR; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; KNEE; LIPODYSTROPHY; MALE; MICROGNATHIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOSE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; SCLERODERMA; SKIN FIBROBLAST; TENDON DISEASE; TIBIA; FATALITY; GENETICS; PATHOLOGY; PEDIGREE; SYNDROME; WERNER SYNDROME;

ADULT; CALCINOSIS; FATAL OUTCOME; HUMANS; JOINT DISEASES; LAMIN TYPE A; MALE; MUTATION, MISSENSE; PEDIGREE; SYNDROME; WERNER SYNDROME;

EID: 32544437002     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2005-1297     Document Type: Article

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