概要 |
Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death.
|
著者 |
Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS |
著者 |
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA |
著者 |
Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M |