| 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 |
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)
03kpps236https://ror.org/03kpps236
ROR identifier (03kpps236, Barcelona Institute of Science and Technology)
02pttbw34https://ror.org/02pttbw34
ROR identifier (02pttbw34, Baylor College of Medicine)
0493xsw21https://ror.org/0493xsw21
ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)
001w7jn25https://ror.org/001w7jn25
ROR identifier (001w7jn25, Charité - Universitätsmedizin Berlin)
04cvxnb49https://ror.org/04cvxnb49
ROR identifier (04cvxnb49, Goethe University Frankfurt)
03ate3e03https://ror.org/03ate3e03
ROR identifier (03ate3e03, Max Planck Institute for Molecular Genetics)
05cz92x43https://ror.org/05cz92x43
ROR identifier (05cz92x43, Texas Children's Hospital)
04n0g0b29https://ror.org/04n0g0b29
ROR identifier (04n0g0b29, Universitat Pompeu Fabra)
05mxhda18https://ror.org/05mxhda18
ROR identifier (05mxhda18, University Hospital Cologne)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774
ROR identifier (00rcxh774, University of Cologne)
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)
Q6NUK1https://www.uniprot.org/uniprot/Q6NUK1
UniProt identifier (Q6NUK1,SCMC1_HUMAN)
Q8WVJ9https://www.uniprot.org/uniprot/Q8WVJ9
UniProt identifier (Q8WVJ9,TWST2_HUMAN)
Q47444829https://www.wikidata.org/wiki/Q47444829
Wikidata ID
