{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:42:44Z","timestamp":1762508564198,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T00:00:00Z","timestamp":1626652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109301h0002"],"award-info":[{"award-number":["19ek0109301h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Elsahy\u2013Waters syndrome (EWS; OMIM#211380) is a rare autosomal recessive disorder that is caused by loss\u2010of\u2010function variants in <jats:italic>CDH11<\/jats:italic>, which encodes cadherin 11. EWS is characterized by brachycephaly, midface hypoplasia, characteristic craniofacial morphology, cervical fusion, cutaneous syndactyly in 2\u20133 digits, genitourinary anomalies, and intellectual disability. To the best of our knowledge, there have been only six patients of molecularly confirmed EWS. We report the first patient of EWS in East Asia in a Japanese man with a novel splice site homozygous variant of <jats:italic>CDH11<\/jats:italic>. We reviewed the clinical and molecular findings in previously reported individuals and the present patient. In addition to the previously reported clinical features of EWS, the present patient had unreported findings of atlantoaxial instability due to posterior displacement of dens, thoracic fusion, thoracic butterfly vertebra, sacralization of the lumbar vertebra (L5), and multiple perineural cysts. The spinal findings in this patient could represent a new spectrum of skeletal phenotypes of EWS. It remains to be clarified whether the multiple perineural cysts in the patient were associated with EWS or coincidental. The current observation might contribute to an expanded understanding of the clinical consequences of loss\u2010of\u2010function of cadherin 11.<\/jats:p>","DOI":"10.1002\/ajmg.a.62423","type":"journal-article","created":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T07:40:02Z","timestamp":1626680402000},"page":"3909-3915","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Detailed clinical and radiological features of the first patient with <scp>Elsahy\u2013Waters<\/scp> syndrome in East Asia"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4136-1040","authenticated-orcid":false,"given":"Mari","family":"Minatogawa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Tsukahara","sequence":"additional","affiliation":[{"name":"Department of Radiology Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunsuke","family":"Yuzuriha","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"},{"name":"Research Center for Supports to Advanced Science  Matsumoto Japan"},{"name":"Division of Clinical Sequencing  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33634"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40379"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197112000-00004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38568"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38495"}],"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.62423","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62423","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62423","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T10:20:00Z","timestamp":1692958800000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,19]]},"references-count":6,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/ajmg.a.62423"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62423","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,7,19]]},"assertion":[{"value":"2021-04-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}