Novel NFIX gene variant in Malan Syndrome
Abstract Introduction The Nuclear Factor I X (NFIX) gene encodes a transcription factor associated with Malan syndrome (MS) and Marshall-Smith syndrome (MSS). MS-associated NFIX microdeletions or NFIX intragenic variants, primarily clustered in exon 2, show no significant genotype–phenotype correlat...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2025-08-01
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| Series: | Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s44162-025-00107-9 |
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