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Article

Macrothrombocytopenia, psychomotor retardation, and nephropathy: a novel familial syndrome.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Nov 2014

Akl Kamal F, Qudah Abdul Karim, Awidi Abdalla, Suleiman Mohammad Jaber, Ababneh Nidaa, Bsoul Nazzal, Magablah Ahmad

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PMID: 25394456
DOI: 10.4103/1319-2442.144273

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A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.Semantic proximity Read ↗

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