Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes
C Arrondel, N Vodovar, B Knebelmann… - Journal of the …, 2002 - journals.lww.com
Mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain IIA, have
been recently reported in three syndromes that share the association of
macrothrombocytopenia (MTCP) and leukocyte inclusions: the May-Hegglin anomaly and
Sebastian and Fechtner syndromes. Epstein syndrome, which associates inherited
sensorineural deafness, glomerular nephritis, and MTCP without leukocyte inclusions, was
shown to be genetically linked to the same locus at 22q12. 3 to 13. The expression of MYH9 …
been recently reported in three syndromes that share the association of
macrothrombocytopenia (MTCP) and leukocyte inclusions: the May-Hegglin anomaly and
Sebastian and Fechtner syndromes. Epstein syndrome, which associates inherited
sensorineural deafness, glomerular nephritis, and MTCP without leukocyte inclusions, was
shown to be genetically linked to the same locus at 22q12. 3 to 13. The expression of MYH9 …