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Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration

Suzena Masih1, Amita Moirangthem1, Shubha R Phadke1

  • 1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

Molecular Syndromology
|June 28, 2021
PubMed

Keywords:
Congenital microcephalyNeurodegenerative disorderPNPLA8Patatin domainWhole-exome sequencing

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