Hereditary nephritis with macrothrombocytopenia: No longer an Alport syndrome variant

Nephrology Dialysis Transplantation

Volumn 16, Issue 6, 2001, Pages 1101-1103

  Knebelmann, Bertrand ^a   Fakhouri, Fadi ^a   Grünfeld, Jean Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; MYOSIN HEAVY CHAIN;

ALPORT SYNDROME; ARTICLE; CHROMOSOME 22Q; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION FUNCTION; FEMALE; GENE MUTATION; GENOTYPE; HEMATOLOGY; HUMAN; IMMUNOCHEMISTRY; MALE; MEDICAL SPECIALIST; MISSENSE MUTATION; MOLECULAR GENETICS; NEPHRITIS; NEPHROLOGY; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTOPENIA;

EID: 0034965098     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/16.6.1101     Document Type: Article

References (16)

1. Hereditary macrothrombocytopathia, nephritis and deafness
2. Fechtner syndrome: A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
3. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13
4. Autosomal-dominant giant platelet syndromes: A hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13
5. Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q13
6. The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1
7. Mutations in MYH9 result in the May-Hegglin anomaly and Fechtner and Sebastian syndromes
8. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
9. Myosins: A diverse superfamily
10. Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome
11. Autosomal dominant alport syndrome caused by a COL4A3 splice site mutation
12. Fechtner syndrome: Report of a third family and literature review
13. Hereditary nephritis, platelet disorders and deafness-Epstein's syndrome
14. Hereditary thrombocytopenia, deafness and renal disease
15. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
16. Genetic causes of hearing loss