| Property | Value |
|---|
| Working Groups |  AG Wollnik |
| Subproject | D02 |
| Open Access |  Yes |
| Publication Type | Journal Article |
| Peer Reviewed | Unknown |
| PMID |  29100093 |
| DOI |  10.1016/j.ajhg.2017.09.016 |
| Publication Year | 2017 |
| Title | De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.  |
| Journal | American journal of human genetics |
| ISSN | 0002-9297 |
| eISSN | 1537-6605 |
| URL | https://www.ncbi.nlm.nih.gov/pubmed/?term=29100093%5Buid%5D |
| Pages | 833-843 |
| Issue | 5 |
| Volume | 101 |
| Journal Abbreviation | Am J Hum Genet |
| Authors | Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U |
| First Author | Ehmke N |
| Last Author | Kornak U |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
cell.com...0385-3https://www.cell.com/ajhg/pdfExtended/S0002-9297(17)30385-3
Article fulltext
gro-2/13652http://resolver.sub.uni-goettingen.de/purl?gro-2/13652
GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
NCBI Taxonomy (Homo sapiens)
209885https://www.omim.org/entry/209885
OMIM identifier
200110https://www.omim.org/entry/200110
OMIM identifier
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364
ORCID Identifier (Bernd Wollnik)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
ars.els-...c1.pdfhttps://ars.els-cdn.com/content/image/1-s2.0-S0002929717303853-mmc1.pdf
Supplemental material
ars.els-...c2.mp4https://ars.els-cdn.com/content/image/1-s2.0-S0002929717303853-mmc2.mp4
Supplemental material (video)
ars.els-...c3.mp4https://ars.els-cdn.com/content/image/1-s2.0-S0002929717303853-mmc3.mp4
Supplemental material (video)
Q15672https://www.uniprot.org/uniprot/Q15672
UniProt identifier (Q15672,TWST1_HUMAN)
Q8WVJ9https://www.uniprot.org/uniprot/Q8WVJ9
UniProt identifier (Q8WVJ9,TWST2_HUMAN)
Q6NUK1https://www.uniprot.org/uniprot/Q6NUK1
UniProt identifier (Q6NUK1,SCMC1_HUMAN)
Q47444829https://www.wikidata.org/wiki/Q47444829
Wikidata ID
