Atypical progeroid syndrome due to heterozygous missense LMNA mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 12, 2009, Pages 4971-4983

  Garg, Abhimanyu ^a   Subramanyam, Lalitha ^a   Agarwal, Anil K ^a   Simha, Vinaya ^a   Levine, Benjamin ^b   D'Apice, Maria Rosaria ^c   Novelli, Giuseppe ^c   Crow, Yanick ^d  

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

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

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALENDRONIC ACID; ATENOLOL; ENALAPRIL; ETANERCEPT; FENOFIBRATE; FTI III; FUROSEMIDE; GGTI 297; GLICLAZIDE; GROWTH HORMONE; LAMIN A; LAMIN C; LEUPRORELIN; LIPID; MEDROXYPROGESTERONE ACETATE; METFORMIN; METHOTREXATE; N [[5 [(2 AMINO 3 MERCAPTOPROPYL)AMINO][1,1' BIPHENYL] 2 YL]CARBONYL]METHIONINE METHYL ESTER; NAPROXEN; PIOGLITAZONE; PRAVASTATIN; PROTEIN PRECURSOR; TRANSFERASE INHIBITOR; TRICHOSTATIN A; UNCLASSIFIED DRUG; WARFARIN;

ACROOSTEOLYSIS; ADOLESCENT; ADULT; ALOPECIA; ARTICLE; ATYPICAL PROGEROID SYNDROME; BODY FAT DISTRIBUTION; BONE MALFORMATION; CELL LYSATE; CELL NUCLEUS; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; DYSMENORRHEA; DYSPHONIA; EPIFLUORESCENCE MICROSCOPY; FEMALE; GENETIC DISORDER; GENETIC VARIABILITY; GLUCOSE INTOLERANCE; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERTENSION; IMMUNOBLOTTING; IMMUNOFLUORESCENCE MICROSCOPY; INSULIN RESISTANCE; LIPID BLOOD LEVEL; LIPODYSTROPHY; MALE; MANDIBLE HYPOPLASIA; MENORRHAGIA; METABOLIC DISORDER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL GLUCOSE TOLERANCE TEST; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; PROTEIN CONTENT; PROTEIN DETERMINATION; PROTEIN EXPRESSION; SCHOOL CHILD; SHORT STATURE; SKIN ATROPHY; SKIN FIBROBLAST;

EID: 73249133180     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0472     Document Type: Article

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