S-EPMC9944668 - A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene. - OmicsDI

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A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene.

ABSTRACT:

SUBMITTER: Krishna D

PROVIDER: S-EPMC9944668 | biostudies-literature | 2023 Jan-Mar

REPOSITORIES: biostudies-literature

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A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene.

Krishna Deepthi D Gunasekaran Pradeep Kumar PK Kumari Janki J Laxmi Veena V Saini Lokesh L Singh Kuldeep K

Journal of neurosciences in rural practice 20221212 1

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