The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene;Le syndrome MYH9 : à propos d'une nouvelle observation et de la mise en évidence d'une nouvelle mutation du gène MYH9

Revue de Medecine Interne

Volumn 27, Issue 10, 2006, Pages 783-786

  Schleinitz, N ^a   Favier, R ^b   Mazodier, K ^a   Difeo, A ^b   Ebbo, M ^a   Veit, V ^a   Berda Haddad, Y ^a   Bernit, E ^a   Heudier, P ^c   Kaplanski, G ^a   Camoin, L ^a   Bardet, V ^b   Harle, J R ^a  

^a HÔPITAL DE LA CONCEPTION   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

Author keywords

Macrothrombocytopenia; May Hegglin anomaly; MYH9 syndrome

Indexed keywords

MYOSIN HEAVY CHAIN; ADENINE; MOLECULAR MOTOR; MYH9 PROTEIN, HUMAN; THYMINE;

ADOLESCENT; ARTICLE; BIOLOGICAL TRAIT; BLOOD EXAMINATION; CASE REPORT; CATARACT; CLINICAL FEATURE; CYTOLOGY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GIANT CELL; HOSPITALIZATION; HUMAN; MAY HEGGLIN ANOMALY; NEPHRITIS; PERCEPTION DEAFNESS; THORAX RADIOGRAPHY; THROMBOCYTE; THROMBOCYTOPATHY; THROMBOCYTOPENIA; EXON; GENETICS; POINT MUTATION; SYNDROME;

ADENINE; ADOLESCENT; EXONS; FEMALE; HUMANS; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; POINT MUTATION; SYNDROME; THROMBOCYTOPENIA; THYMINE;

EID: 33749151589     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2006.07.012     Document Type: Article

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