TY  - GEN
AU  - Topaloglu,A Kemal
AU  - Lomniczi,Alejandro
AU  - Kretzschmar,Doris
AU  - Dissen,Gregory A
AU  - Kotan,L Damla
AU  - McArdle,Craig A
AU  - Koc,A Filiz
AU  - Hamel,Ben C
AU  - Guclu,Metin
AU  - Papatya,Esra D
AU  - Eren,Erdal
AU  - Mengen,Eda
AU  - Gurbuz,Fatih
AU  - Cook,Mandy
AU  - Castellano,Juan M
AU  - Kekil,M Burcu
AU  - Mungan,Neslihan O
AU  - Yuksel,Bilgin
AU  - Ojeda,Sergio R
TI  - Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome
SN  - 1945-7197
PY  - 2015///0122
KW  - Adolescent
KW  - Carboxylic Ester Hydrolases
KW  - genetics
KW  - Cerebellar Ataxia
KW  - Family Health
KW  - Female
KW  - Gonadotropin-Releasing Hormone
KW  - deficiency
KW  - Homeostasis
KW  - Humans
KW  - Hypogonadism
KW  - Male
KW  - Middle Aged
KW  - Nerve Degeneration
KW  - Pedigree
KW  - Phospholipases
KW  - Phospholipids
KW  - metabolism
KW  - Puberty, Delayed
N1  - 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
UR  - https://doi.org/10.1210/jc.2014-1836
ER  -