{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:25:25Z","timestamp":1786976725015,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T00:00:00Z","timestamp":1662508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) Syndrome is a syndrome recently identified among three German patients. Clinical characteristics include eye disease, sensorineural hearing loss, distinct facial and phalangeal features, short stature, developmental delay, and cerebellar atrophy. In this case report, we discuss a fourth identified patient with genomic mutations in the\n                    <jats:italic>EXOSC2<\/jats:italic>\n                    gene which codes for a cap protein in the RNA exosome. Whole exome sequencing identified two mutations of unknown clinical significance including: a heterozygous maternal variant, missense mutation NM_014285.7: c427G&gt;A (p.Ala143Thr) in exon 6 and a heterozygous paternal variant, splice donor NM_014285.5: c.801+1G&gt;A in intron 8. Our patient demonstrates a novel clinical presentation within the SHRF disease spectrum.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62964","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T08:29:38Z","timestamp":1662539378000},"page":"3535-3539","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8061-9713","authenticated-orcid":false,"given":"Ashley","family":"Reeves","sequence":"first","affiliation":[{"name":"LSUHSC Department of Pediatrics  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanwal","family":"Ojha","sequence":"additional","affiliation":[{"name":"Tulane University School of Medicine  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Meddaugh","sequence":"additional","affiliation":[{"name":"LCMC Health Department of Genetics  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina M.","family":"Zambrano","sequence":"additional","affiliation":[{"name":"LSUHSC Department of Pediatrics  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.011"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103511"},{"key":"e_1_2_7_4_1","article-title":"Invitae Exome, Trio: Test Catalog","author":"Invitae Boosted Exome","year":"2017","journal-title":"Invitae, Invitae Corporation"},{"key":"e_1_2_7_5_1","unstructured":"Invitae. (2022).Provider FAQs: Technology and quality[online]. Available at:https:\/\/www.invitae.com\/en\/provider-faqs\/tech-and-quality. Accessed April 13 2022."},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.064626.117"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ncrna4010008"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa108"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2254"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz251"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2017.1378838"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62964","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62964","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62964","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T09:05:46Z","timestamp":1692522346000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62964"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,7]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/ajmg.a.62964"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62964","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,7]]},"assertion":[{"value":"2022-02-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}