ZTTK syndrome - significado y definición. Qué es ZTTK syndrome
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Qué (quién) es ZTTK syndrome - definición


ZTTK syndrome         
  • Role of the spliceosome-associated gene, SON in regulating RNA splicing through intron retention and exon skipping to maintain the pluripotency of human embryonic stem cells (hESCs) and cell-cycle progression
HUMAN DISEASE
ZTTK Syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; Zhu–Tokita–Takenouchi–Kim syndrome
ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and sometimes moderate to several intellectual disability.
Reye's syndrome         
SYNDROME CHARACTERIZED BY ACUTE BRAIN DAMAGE AND LIVER FUNCTION PROBLEMS
Reyes Syndrome; Reye Syndrome; Reye's Syndrome; Reyes syndrome; Reye’s Syndrome; Reye hepatocerebral syndrome; Rye syndrome; Reye s syndrome; Reye's s syndrome; Reye's syndrome; Reye’s syndrome
['re?z, 'r??z]
¦ noun a life-threatening metabolic disorder in young children, of uncertain cause.
Origin
1960s: named after the Australian paediatrician Ralph D. K. Reye.
Frey's syndrome         
HUMAN DISEASE
Auriculotemporal syndrome; Frey syndrome
Frey's syndrome (also known as Baillarger's syndrome, Dupuy's syndrome, auriculotemporal syndrome, or Frey-Baillarger syndrome) is a rare neurological disorder resulting from damage to or near the parotid glands responsible for making saliva, and from damage to the auriculotemporal nerve often from surgery.