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Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d9f301b2b2bd48bcbc58c74a89019c4b

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

About this item

Full title

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00959-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Background
Oculo‐auriculo‐vertebral spectrum (OAVS) is a craniofacial developmental disorder that affects structures derived from the first and second pharyngeal arches. The clinically heterogeneous phenotype involves mandibular, oral, and ear development anomalies. Etiology is complex and poorly understood. Genetic factors have been associated,...

Alternative Titles

Full title

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_d9f301b2b2bd48bcbc58c74a89019c4b

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d9f301b2b2bd48bcbc58c74a89019c4b

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.959

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