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Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

Fechtner syndrome is an autosomal-dominant variant of Alport syndrome, manifested by nephritis, sensorineural hearing loss, cataract formation, macrothrombocytopenia, and polymorphonuclear inclusion bodies. As opposed to autosomal-recessive and X-linked Alport syndromes, which have been genetically...

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Detalhes bibliográficos
Main Authors: Toren, Amos, Amariglio, Ninette, Rozenfeld-Granot, Galit, Simon, Amos J., Brok-Simoni, Frida, Pras, Elon, Rechavi, Gideon
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288382/
https://ncbi.nlm.nih.gov/pubmed/10577925
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