| 概要 |
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the TSPYL1 gene.
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| 著者 |
Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA |
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| 著者 |
Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O |
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