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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14. - Publication Year :
- 2024
Details
- Language :
- English
- ISSN :
- 1537-6605
- Volume :
- 111
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Accession number :
- 38749428
- Full Text :
- https://doi.org/10.1016/j.ajhg.2024.05.004