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Craniofacial characteristics of fragile X syndrome in mouse and man

Craniofacial characteristics of fragile X syndrome in mouse and man

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3722676

Craniofacial characteristics of fragile X syndrome in mouse and man

About this item

Full title

Craniofacial characteristics of fragile X syndrome in mouse and man

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.816-823

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a...

Alternative Titles

Full title

Craniofacial characteristics of fragile X syndrome in mouse and man

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3722676

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3722676

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2012.265

How to access this item