Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency

Journal of Investigative Medicine

Volumn 54, Issue 4, 2006, Pages 208-213

  Agarwal, Anil K ^a   Zhou, Xin J ^a   Hall, Roger K ^b   Nicholls, Kathy ^c   Bankier, Agnes ^d   Van Esch, Hilde ^e   Fryns, Jean Pierre ^e   Garg, Abhimanyu ^a,f  

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

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c ROYAL MELBOURNE HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

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

Author keywords

Lamin A C; Lipodystrophy; Mandibuloacral dysplasia; Progeroid syndrome; Zinc metalloproteinase

Indexed keywords

COMPLEMENTARY DNA; LAMIN A; LAMIN C; METALLOPROTEINASE; PROTEINASE; ZINC;

ADULT; ARTICLE; AUSTRALIA; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CLAVICLE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; JAW MALFORMATION; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LIPODYSTROPHY; MALE; MANDIBLE; MANDIBULOACRAL DYSPLASIA; SYNDROME DELINEATION;

EID: 33748329411     PISSN: 17088267     EISSN: None     Source Type: Journal    
DOI: 10.2310/6650.2006.05068     Document Type: Article

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