Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene
Abstract Background Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of the phosphoesterase (DHH) protein superfamily that is involved in t...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2022-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |