An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder
Disruption of genes within the HNRNP gene family has been observed in neurodevelopmental and neurodegenerative diseases. The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs), while each unique, have been recently described with similar clinical and molecular features across variation in seve...
Հիմնական հեղինակներ: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Ձևաչափ: | Հոդված |
Լեզու: | English |
Հրապարակվել է: |
Elsevier
2024-01-01
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Շարք: | Rare |
Խորագրեր: | |
Առցանց հասանելիություն: | http://www.sciencedirect.com/science/article/pii/S2950008724000358 |