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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7387113

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

About this item

Full title

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

Publisher

England: BMJ Publishing Group LTD

Journal title

Journal of medical genetics, 2019-03, Vol.56 (3), p.149-153

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

BackgroundPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects.MethodsHigh-resolution microarrays, comprehensive chromosome 15 genotypi...

Alternative Titles

Full title

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7387113

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7387113

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2018-105301

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