Homozygous Missense Variation in <i>PNPLA8</i> Causes Prenatal-Onset Severe Neurodegeneration.

Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.

Masih, Suzena; Moirangthem, Amita; Phadke, Shubha R.

Afiliação

Masih S; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Moirangthem A; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

Mol Syndromol ; 12(3): 174-178, 2021 Jun.

Article em En | MEDLINE | ID: mdl-34177434