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Hydrolethalus syndrome, in contrast to Smith–Lemli–Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: A case report
Dinesh Rakheja, Michael L. Cimo, Ronald M. Ramus, Beverly B. Rogers, Michael J. Bennett, Philip J. Boyer, Rene L. GalindoVolume:
129A
Année:
2004
Langue:
english
Pages:
2
DOI:
10.1002/ajmg.a.30190
Fichier:
PDF, 56 KB
english, 2004