Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. [electronic resource]
Producer: 20150122Description: E2067-75 p. digitalISSN:- 1945-7197
- Adolescent
- Carboxylic Ester Hydrolases -- genetics
- Cerebellar Ataxia -- genetics
- Family Health
- Female
- Gonadotropin-Releasing Hormone -- deficiency
- Homeostasis -- genetics
- Humans
- Hypogonadism -- genetics
- Male
- Middle Aged
- Nerve Degeneration -- genetics
- Pedigree
- Phospholipases -- genetics
- Phospholipids -- metabolism
- Puberty, Delayed -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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