Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

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Serval ID
serval:BIB_923350BBEBB0
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
Journal
American journal of medical genetics. Part A
Author(s)
Campos-Xavier B., Rogers R.C., Niel-Bütschi F., Ferreira C., Unger S., Spranger J., Superti-Furga A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
12/2018
Peer-reviewed
Oui
Volume
176
Number
12
Pages
2934-2935
Language
english
Notes
Publication types: Letter
Publication Status: ppublish
OAI-PMH
oai:serval.unil.ch:BIB_923350BBEBB0
DOI
10.1002/ajmg.a.40631
Pubmed
30284759
Web of science
000454612700062
Create date
16/10/2018 10:25
Last modification date
20/08/2019 14:55
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