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Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1762362772

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

About this item

Full title

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Human genetics, 2016-01, Vol.135 (1), p.89-98

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

T2 hyperintensity of brain white matter lesions detected by magnetic resonance imaging (MRI) are characteristic of a heterogeneous group of diseases. Persistent T2 high intensity in combination with T1 iso- or high intensity of white matter in infants indicates a lack of normal myelination, that is, hypomyelination. However, the precise diagnosis o...

Alternative Titles

Full title

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1762362772

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1762362772

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-015-1617-7

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