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  1. Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked dis...

    Authors: Mario Loi

    Citation: Orphanet Journal of Rare Diseases 2006 1:16

    Content type: Review

    Published on:

  2. X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are u...

    Authors: Richard Gibbons

    Citation: Orphanet Journal of Rare Diseases 2006 1:15

    Content type: Review

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  3. Thromboangiitis obliterans or Buerger's disease is a segmental occlusive inflammatory condition of arteries and veins, characterized by thrombosis and recanalization of the affected vessels. It is a non-athero...

    Authors: Perttu ET Arkkila

    Citation: Orphanet Journal of Rare Diseases 2006 1:14

    Content type: Review

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  4. Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38...

    Authors: Roger K Hall

    Citation: Orphanet Journal of Rare Diseases 2006 1:12

    Content type: Review

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  5. Idiopathic chronic eosinophilic pneumonia (ICEP) is characterized by subacute or chronic respiratory and general symptoms, alveolar and/or blood eosinophilia, and peripheral pulmonary infiltrates on chest imag...

    Authors: Eric Marchand and Jean-François Cordier

    Citation: Orphanet Journal of Rare Diseases 2006 1:11

    Content type: Review

    Published on:

  6. Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitativ...

    Authors: Alan T Nurden

    Citation: Orphanet Journal of Rare Diseases 2006 1:10

    Content type: Review

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  7. Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). ...

    Authors: Paolo Beck-Peccoz and Luca Persani

    Citation: Orphanet Journal of Rare Diseases 2006 1:9

    Content type: Review

    Published on:

  8. Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable de...

    Authors: Raffaele Calabrò and Giuseppe Limongelli

    Citation: Orphanet Journal of Rare Diseases 2006 1:8

    Content type: Review

    Published on:

  9. Dopamine beta-hydroxylase (DβH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma...

    Authors: Jean-Michel Senard and Philippe Rouet

    Citation: Orphanet Journal of Rare Diseases 2006 1:7

    Content type: Review

    Published on:

  10. Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease, which is autoimmune in origin and is characterized by the presence of autoantibodies directed against nuclear antigens. It is a multi-s...

    Authors: Jessica J Manson and Anisur Rahman

    Citation: Orphanet Journal of Rare Diseases 2006 1:6

    Content type: Review

    Published on:

  11. The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodon...

    Authors: Agnès Bloch-Zupan and Jane R Goodman

    Citation: Orphanet Journal of Rare Diseases 2006 1:5

    Content type: Review

    Published on:

  12. Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins...

    Authors: Wolfgang Holtmeier and Wolfgang F Caspary

    Citation: Orphanet Journal of Rare Diseases 2006 1:3

    Content type: Review

    Published on: