X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIF...
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
About this item
Full title
Author / Creator
Miyake, Noriko , Wolf, Nicole I. , Cayami, Ferdy K. , Crawford, Joanna , Bley, Annette , Bulas, Dorothy , Conant, Alex , Bent, Stephen J. , Gripp, Karen W. , Hahn, Andreas , Humphray, Sean , Kimura-Ohba, Shihoko , Kingsbury, Zoya , Lajoie, Bryan R. , Lal, Dennis , Micha, Dimitra , Pizzino, Amy , Sinke, Richard J. , Sival, Deborah , Stolte-Dijkstra, Irene , Superti-Furga, Andrea , Ulrick, Nicole , Taft, Ryan J. , Ogata, Tsutomu , Ozono, Keiichi , Matsumoto, Naomichi , Neubauer, Bernd A. , Simons, Cas and Vanderver, Adeline
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common
AIFM1
mutation. In our study, 12 patients (6 families) with H-SMD were identified...
Alternative Titles
Full title
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Authors, Artists and Contributors
Author / Creator
Wolf, Nicole I.
Cayami, Ferdy K.
Crawford, Joanna
Bley, Annette
Bulas, Dorothy
Conant, Alex
Bent, Stephen J.
Gripp, Karen W.
Hahn, Andreas
Humphray, Sean
Kimura-Ohba, Shihoko
Kingsbury, Zoya
Lajoie, Bryan R.
Lal, Dennis
Micha, Dimitra
Pizzino, Amy
Sinke, Richard J.
Sival, Deborah
Stolte-Dijkstra, Irene
Superti-Furga, Andrea
Ulrick, Nicole
Taft, Ryan J.
Ogata, Tsutomu
Ozono, Keiichi
Matsumoto, Naomichi
Neubauer, Bernd A.
Simons, Cas
Vanderver, Adeline
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5705759
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5705759
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-017-0520-x
