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A pathogenic deletion in Forkhead Box L1 gene

A pathogenic deletion in Forkhead Box L1 gene

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A701465616

A pathogenic deletion in Forkhead Box L1 gene

About this item

Full title

A pathogenic deletion in Forkhead Box L1 gene

Publisher

Springer

Journal title

Human genetics, 2022-04, Vol.141 (3-4), p.965

Language

English

Formats

Publication information

Publisher

Springer

More information

Scope and Contents

Contents

Otosclerosis is a bone disorder of the otic capsule and common form of late-onset hearing impairment. Considered a complex disease, little is known about its pathogenesis. Over the past 20 years, ten autosomal dominant loci (OTSC1-10) have been mapped but no genes identified. Herein, we map a new OTSC locus to a 9.96 Mb region within the FOX gene c...

Alternative Titles

Full title

A pathogenic deletion in Forkhead Box L1 gene

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A701465616

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A701465616

Other Identifiers

ISSN

0340-6717

DOI

10.1007/s00439-021-02381-1

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