A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.

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Serval ID
serval:BIB_8B92FDB4224E
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
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.
Journal
Clinical dysmorphology
Author(s)
Maroofian R., Murdocca M., Rezaei-Delui H., Nekooei A., Mojarad M., Sangiuolo F., Novelli G., Superti-Furga A., D'Apice M.R.
ISSN
1473-5717 (Electronic)
ISSN-L
0962-8827
Publication state
Published
Issued date
07/2018
Peer-reviewed
Oui
Volume
27
Number
3
Pages
88-90
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Keywords
Adult, Consanguinity, Family, Female, Gene Deletion, Genes, Recessive, Humans, Iran, Lamin Type A/genetics, Lamin Type A/metabolism, Male, Membrane Proteins/genetics, Membrane Proteins/physiology, Metalloendopeptidases/genetics, Metalloendopeptidases/physiology, Pedigree, Progeria/genetics, Progeria/physiopathology
OAI-PMH
oai:serval.unil.ch:BIB_8B92FDB4224E
DOI
10.1097/MCD.0000000000000220
Pubmed
29595749
Web of science
000435345800004
Create date
12/04/2018 18:53
Last modification date
20/08/2019 15:50
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