suck pdf from google scholar
unlimited free pdf from europmc12624132    free
PDF from PMC    free
html from PMC    free
PDF vom PMID12624132 :   free
PDF vom PMID12624132
suck pdf from library genesis
English Wikipedia

Nephropedia Template TP (

Twit Text


  • DeepDyve
  • Pubget Overpricing


  • lüll
  • Nail patella syndrome: a review of the phenotype aided by developmental biology
  • Sweeney E; Fryer A; Mountford R; Green A; McIntosh I
  • J Med Genet 2003[Mar]; 40 (3): 153-62
  • Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes, and iliac horns on x ray. Kidney involvement may lead to renal failure and there is also a risk of glaucoma. There is marked inter- and intrafamilial variability. The results of a British study involving 123 NPS patients are compared with previously published studies and it is suggested that neurological and vasomotor symptoms are also part of the NPS phenotype. In addition, the first data on the incidence of glaucoma and gastrointestinal (GI) symptoms in NPS are presented. NPS is caused by loss of function mutations in the transcription factor LMX1B at 9q34. The expansion of the clinical phenotype is supported by the role of LMX1B during development.
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Age Factors[MESH]
  • |Aged[MESH]
  • |Aged, 80 and over[MESH]
  • |Ankle Joint/abnormalities/physiopathology[MESH]
  • |Back Pain/pathology[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Elbow/abnormalities/physiopathology[MESH]
  • |Family Health[MESH]
  • |Female[MESH]
  • |Finger Joint/abnormalities/physiopathology[MESH]
  • |Homeodomain Proteins/genetics[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Knee Joint/abnormalities/physiopathology[MESH]
  • |LIM-Homeodomain Proteins[MESH]
  • |Male[MESH]
  • |Middle Aged[MESH]
  • |Movement/physiology[MESH]
  • |Mutation[MESH]
  • |Nail-Patella Syndrome/*genetics/*pathology[MESH]
  • |Nails, Malformed[MESH]
  • |Phenotype[MESH]
  • |Transcription Factors[MESH]





  • *{{pmid12624132}}
    *<b>[http://www.kidney.de/mlpefetch.php?search=12624132 Nail patella syndrome: a review of the phenotype aided by developmental biology ]</b> J Med Genet 2003; 40(3) ; 153-62 Sweeney E; Fryer A; Mountford R; Green A; McIntosh I

        *12624132*

    Nephropedia PMID record

    Deutsche Wikipedia - im Artikel

    Hier den unten stehenden Textblock hineinkopieren

    J Med Genet

    153 3.40 2003