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Missense Variation in <em>TPP1</em> Gene causes Neuronal Ceroid Lipofuscinosis Type 2 in a Family from Jammu and Kashmir-India

2021-07-29

Abstract excerpt

We report diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2), a rare, hereditary neurodegenerative disease of childhood, in a four and a half year old girl, the first child of non-consanguineous parents with no family history. Despite extensive efforts by the parents, her clinical condition remained undiagnosed and without management, until recently. Our published &ldquo;Bottom-up Approach&rdquo;, based on...

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Literature Corpus work
1eaf5c9b-ff69-5fa8-9e81-418c946eaffe
DOI
10.20944/preprints202107.0661.v1
Open publication

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