Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome (Q33570147)
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English | Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome |
scientific article |
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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome (English)
1 reference
A Kemal Topaloglu
Alejandro Lomniczi
Gregory A Dissen
A Filiz Koc
Metin Guclu
Esra D Papatya
Mandy Cook
M Burcu Kekil
Neslihan O Mungan
Sergio R Ojeda
1 reference