MeSH 搜索器

Sotos Syndrome

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
推出的年份: 2011
副标题
树号: C16.131.077.889, C16.131.260.905, C16.320.180.905
MeSH 单一 ID: D058495
进入的组:
  • Syndrome, Sotos
  • Sotos Sequence
  • Sequence, Sotos
  • Sotos' Syndrome
  • Soto Syndrome
  • Soto's Syndrome
  • Syndrome, Sotos'
  • Cerebral Gigantism
  • Cerebral Gigantisms
  • Gigantism, Cerebral
  • Gigantisms, Cerebral
早前的内容:
  • Acromegaly (1977-2010)
  • Gigantism (1977-2010)

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