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Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 236 - 247
Journal Article
Human Mutation, ISSN 1059-7794, 03/2008, Volume 29, Issue 3, pp. 409 - 417
Journal Article
NEFROLOGÍA, ISSN 0211-6995, 03/2019, Volume 39, Issue 2, pp. 133 - 140
Las enfermedades relacionadas con mutaciones del gen son un grupo de patologías genéticas raras. Su herencia sigue un patrón autosómico dominante en donde el... 
Sindrome de Sebastián | Thrombocytopenia | Anomalía de May-Hegglin | Trombocitopenia | Epstein syndrome | May-Hegglin anomaly | Nefropatía MYH9 | Síndrome de Alport | Hearing loss | Alport syndrome | Hipoacusia | Síndrome de Epstein | MYH9 nephropathy
Journal Article
NEFROLOGIA, ISSN 0211-6995, 03/2019, Volume 39, Issue 2, pp. 133 - 140
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare MYH9 nephropathy group of genetic entities. Its inheritance follows an... 
Thrombocytopenia | INHERITED THROMBOCYTOPENIAS | Epstein syndrome | RENAL-DISEASE | May-Hegglin anomaly | Hearing loss | HEAVY-CHAIN-IIA | POLYMORPHISMS | EPSTEIN | Alport syndrome | UROLOGY & NEPHROLOGY | MYH9-RELATED DISEASE | MUTATIONS | CHRONIC KIDNEY-DISEASE | EXPRESSION | MYH9 nephropathy | GENE MYH9
Journal Article
NEFROLOGIA (English Edition), ISSN 2013-2514, 03/2019, Volume 39, Issue 2, pp. 133 - 140
related diseases are caused by mutations in the gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern.... 
Thrombocytopenia | Sindrome de Sebastián | Anomalía de May-Hegglin | Trombocitopenia | Epstein syndrome | May-Hegglin anomaly | Nefropatía MYH9 | Síndrome de Alport | Hearing loss | Alport syndrome | Hipoacusia | Síndrome de Epstein | MYH9 nephropathy
Journal Article
Kidney International, ISSN 0085-2538, 11/2011, Volume 80, Issue 10, pp. 1055 - 1063
Journal Article
Korean Journal of Medicine(구 대한내과학회지), ISSN 1738-9364, 2017, Volume 92, Issue 6, pp. 546 - 551
MYH9-RD는 만성 면역혈소판감소자색반병으로 오진되는 경우가 가장 많고 특히 본 환자와 같이 가족력이 없는 경우에 더욱 그렇다[4]. 만일 혈소판의 수가 감소되어 있으며 그 크기가 크고 골수 검사에서 거대핵세포의 수가 정상이거나 약간 증가되어 있고, 신기능 저하, 감각신경 난청이... 
Thrombocytopenia | 감각신경성 난청 | Sensorineural | Thrombopoietin mimetic Peptide | 엡스타인증후군 | 만성 신장 질환 | Epstein syndrome | 혈소판감소증 | 트롬보포이에틴 유사 펩타이드 | Hearing loss | Chronic kidney diseases | 내과학
Journal Article
PloS one, ISSN 1932-6203, 2012, Volume 7, Issue 4, p. e35986
Journal Article
Nephrology, ISSN 1320-5358, 04/2019, Volume 24, Issue 4, pp. 450 - 455
Journal Article