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Publication
PropertyValue
Working Groups AG Wollnik
SubprojectD02
Open AccessNo
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 28067911
DOIDOI 10.1038/ng.3765
Publication Year2017
TitleDe novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
JournalNature Genetics
ISSN1061-4036
URL http://dx.doi.org/10.1038/ng.3765
Pages249-255
Issue2
Volume49
Journal AbbreviationNat Genet
AuthorsGordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B
First AuthorGordon CT
Last AuthorReversade B

 External Resources

 nature.com/articles/ng.3765.pdf  Article fulltext

 EGAS00001002193  EGA identifier (EGAS00001002193)

 gro-2/2874  GRO.publications identifier

 0000-0002-9300-8399  ORCID identifier (Christopher Gordon)

 0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 0000-0002-3381-7266  ORCID identifier (Axel M. Hillmer)

 0000-0002-2984-1474  ORCID identifier (Marnie E. Blewitt)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 0000-0002-4070-7997  ORCID identifier (Bruno Reversade)

 2CG9  RCSB PDB Identifier (2CG9)

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 static-c...SM.pdf  Supplemental material

 vstatic-...M.xlsx  Supplemental material (table)

 static-c...M.xlsx  Supplemental material (table)

 Q29465788  Wikidata ID