Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 103-106, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-353534
ABSTRACT
<p><b>OBJECTIVE</b>To improve the recognition of Fechtner syndrome.</p><p><b>METHODS</b>The clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.</p><p><b>RESULTS AND CONCLUSION</b>Giant platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (Döhle-like bodies) were found in both peripheral blood and bone marrow smears of the patient. Clinically the patient had renal damage, nervous deafness, and vitreous lesions. There was a family genetic tendency on family survey the diagnosis of Fechtner syndrome is established.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trombocitopenia
/
Cadeias Pesadas de Miosina
/
Proteínas Motores Moleculares
/
Genética
/
Perda Auditiva Neurossensorial
/
Mutação
/
Nefrite Hereditária
Limite:
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2011
Tipo de documento:
Artigo
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