MYH9-related disorders: Report on a patient of greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation

Journal of Pediatric Hematology/Oncology

Volumn 34, Issue 6, 2012, Pages 412-415

  Economou, Marina ^a   Batzios, Spyros P ^a   Pecci, Alessandro ^b   Printza, Nikoletta ^a   Savoia, Anna ^b   Barozzi, Serena ^b   Theodoridou, Stamatia ^c   Teli, Aikaterini ^a   Psillas, Georgios ^d   Zafeiriou, Dimitrios I ^a  

^a 1st Department of Pediatrics   (Greece)

^b UNIVERSITY OF PAVIA   (Italy)

^c Aristotle University and Hippokration General Hospital   (Greece)

^d ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

Fechtner syndrome; MYH9 related disorders; nonmuscle myosin IIA; p.R1165C mutation

Indexed keywords

ARGININE; CYSTEINE; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 9; MYOSIN IIA; UNCLASSIFIED DRUG;

ARTICLE; AUDIOMETRY; CASE REPORT; CATARACT; CHILD; DISEASE SEVERITY; EPISTAXIS; EXON; FECHTNER SYNDROME; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HEARING LOSS; HEMATURIA; HUMAN; IMMUNOFLUORESCENCE TEST; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; MYOSIN HEAVY CHAIN 9 GENE; NEUTROPHIL COUNT; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOCYTE COUNT; THROMBOCYTE VOLUME; THROMBOCYTOPENIA;

ADOLESCENT; CATARACT; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GREECE; HEMATURIA; HUMANS; MALE; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; POINT MUTATION;

EID: 84864328013     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e318257a64b     Document Type: Article

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