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    Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

    Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2 von Tammachote, Rachaneekorn, Kingsuwannapong, Nelawat, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Yeetong, Patra, Kingwatanakul, Pornchai, Monico, Carla G., Suphapeetiporn, Kanya, Shotelersuk, Vorasuk


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