Ophthalmic Findings Associated with NEDD4L-related Disorder

Ophthalmic Findings Associated with NEDD4L-related Disorder

Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in litera...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of AAPOS 2022-06, Vol.26 (3), p.164-167
Hauptverfasser: Santilli, Christopher, Aggarwal, Anjali, Dailey, Christina, McClelland, Collin
Format: Artikel
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 167
container_issue 3
container_start_page 164
container_title Journal of AAPOS
container_volume 26
creator Santilli, Christopher
Aggarwal, Anjali
Dailey, Christina
McClelland, Collin
description Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.
doi_str_mv 10.1016/j.jaapos.2022.02.012
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2665561673</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S109185312200101X</els_id><sourcerecordid>2665561673</sourcerecordid><originalsourceid>FETCH-LOGICAL-c362t-16f630bc773e6abc5faba8876f04264f800f3b496b245747eeb44f106bcbedb93</originalsourceid><addsrcrecordid>eNp9kFtLxDAQhYMo7rr6D0T66Etrbk1bBEH2osLivuhzSNKpm9KbSVfx39u1q4_CwAzDOXOYD6FLgiOCibgpo1KprvURxZRGeChCj9CUxDQNWcbY8TDjjIRpzMgEnXlfYoxFRsgpmrA4ThJMyRTdbrptv1VVbU2wsk1umzcf3HvfGqt6yINP22-D5-Viwdehg-pnt7C-dTm4c3RSqMrDxaHP0Otq-TJ_DNebh6f5_To0TNA-JKIQDGuTJAyE0iYulFZpmogCcyp4kWJcMM0zoSmPE54AaM4LgoU2GnKdsRm6Hu92rn3fge9lbb2BqlINtDsvqRBxLIhI2CDlo9S41nsHheycrZX7kgTLPTZZyhGb3GOTeChCB9vVIWGna8j_TL-cBsHdKIDhzw8LTnpjoTGQWweml3lr_0_4BuE1ft0</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2665561673</pqid></control><display><type>article</type><title>Ophthalmic Findings Associated with NEDD4L-related Disorder</title><source>Elsevier ScienceDirect Journals</source><creator>Santilli, Christopher ; Aggarwal, Anjali ; Dailey, Christina ; McClelland, Collin</creator><creatorcontrib>Santilli, Christopher ; Aggarwal, Anjali ; Dailey, Christina ; McClelland, Collin</creatorcontrib><description>Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.</description><identifier>ISSN: 1091-8531</identifier><identifier>EISSN: 1528-3933</identifier><identifier>DOI: 10.1016/j.jaapos.2022.02.012</identifier><identifier>PMID: 35577021</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><ispartof>Journal of AAPOS, 2022-06, Vol.26 (3), p.164-167</ispartof><rights>2022 American Association for Pediatric Ophthalmology and Strabismus</rights><rights>Copyright © 2022 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c362t-16f630bc773e6abc5faba8876f04264f800f3b496b245747eeb44f106bcbedb93</citedby><cites>FETCH-LOGICAL-c362t-16f630bc773e6abc5faba8876f04264f800f3b496b245747eeb44f106bcbedb93</cites><orcidid>0000-0002-9250-7137</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S109185312200101X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35577021$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Santilli, Christopher</creatorcontrib><creatorcontrib>Aggarwal, Anjali</creatorcontrib><creatorcontrib>Dailey, Christina</creatorcontrib><creatorcontrib>McClelland, Collin</creatorcontrib><title>Ophthalmic Findings Associated with NEDD4L-related Disorder</title><title>Journal of AAPOS</title><addtitle>J AAPOS</addtitle><description>Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.</description><issn>1091-8531</issn><issn>1528-3933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kFtLxDAQhYMo7rr6D0T66Etrbk1bBEH2osLivuhzSNKpm9KbSVfx39u1q4_CwAzDOXOYD6FLgiOCibgpo1KprvURxZRGeChCj9CUxDQNWcbY8TDjjIRpzMgEnXlfYoxFRsgpmrA4ThJMyRTdbrptv1VVbU2wsk1umzcf3HvfGqt6yINP22-D5-Viwdehg-pnt7C-dTm4c3RSqMrDxaHP0Otq-TJ_DNebh6f5_To0TNA-JKIQDGuTJAyE0iYulFZpmogCcyp4kWJcMM0zoSmPE54AaM4LgoU2GnKdsRm6Hu92rn3fge9lbb2BqlINtDsvqRBxLIhI2CDlo9S41nsHheycrZX7kgTLPTZZyhGb3GOTeChCB9vVIWGna8j_TL-cBsHdKIDhzw8LTnpjoTGQWweml3lr_0_4BuE1ft0</recordid><startdate>20220601</startdate><enddate>20220601</enddate><creator>Santilli, Christopher</creator><creator>Aggarwal, Anjali</creator><creator>Dailey, Christina</creator><creator>McClelland, Collin</creator><general>Elsevier Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9250-7137</orcidid></search><sort><creationdate>20220601</creationdate><title>Ophthalmic Findings Associated with NEDD4L-related Disorder</title><author>Santilli, Christopher ; Aggarwal, Anjali ; Dailey, Christina ; McClelland, Collin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c362t-16f630bc773e6abc5faba8876f04264f800f3b496b245747eeb44f106bcbedb93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Santilli, Christopher</creatorcontrib><creatorcontrib>Aggarwal, Anjali</creatorcontrib><creatorcontrib>Dailey, Christina</creatorcontrib><creatorcontrib>McClelland, Collin</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of AAPOS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Santilli, Christopher</au><au>Aggarwal, Anjali</au><au>Dailey, Christina</au><au>McClelland, Collin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ophthalmic Findings Associated with NEDD4L-related Disorder</atitle><jtitle>Journal of AAPOS</jtitle><addtitle>J AAPOS</addtitle><date>2022-06-01</date><risdate>2022</risdate><volume>26</volume><issue>3</issue><spage>164</spage><epage>167</epage><pages>164-167</pages><issn>1091-8531</issn><eissn>1528-3933</eissn><abstract>Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>35577021</pmid><doi>10.1016/j.jaapos.2022.02.012</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-9250-7137</orcidid></addata></record>
fulltext fulltext
identifier ISSN: 1091-8531
ispartof Journal of AAPOS, 2022-06, Vol.26 (3), p.164-167
issn 1091-8531
1528-3933
language eng
recordid cdi_proquest_miscellaneous_2665561673
source Elsevier ScienceDirect Journals
title Ophthalmic Findings Associated with NEDD4L-related Disorder
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T01%3A24%3A19IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Ophthalmic%20Findings%20Associated%20with%20NEDD4L-related%20Disorder&rft.jtitle=Journal%20of%20AAPOS&rft.au=Santilli,%20Christopher&rft.date=2022-06-01&rft.volume=26&rft.issue=3&rft.spage=164&rft.epage=167&rft.pages=164-167&rft.issn=1091-8531&rft.eissn=1528-3933&rft_id=info:doi/10.1016/j.jaapos.2022.02.012&rft_dat=%3Cproquest_cross%3E2665561673%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2665561673&rft_id=info:pmid/35577021&rft_els_id=S109185312200101X&rfr_iscdi=true