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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
Rachaneekorn Tammachote, Nelawat Kingsuwannapong, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Patra Yeetong, Pornchai Kingwatanakul, Carla G. Monico, Kanya Suphapeetiporn, Vorasuk ShotelersukVolume:
158A
Year:
2012
Language:
english
Pages:
1
DOI:
10.1002/ajmg.a.35495
File:
PDF, 231 KB
english, 2012