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We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.<\/jats:p>","DOI":"10.1002\/ccr3.7165","type":"journal-article","created":{"date-parts":[[2023,4,8]],"date-time":"2023-04-08T01:38:21Z","timestamp":1680917901000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>RNA<\/scp>\n                    analysis of intronic variants in the\n                    <scp>LAMA2<\/scp>\n                    gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb\u2010girdle muscular dystrophy"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6166-6613","authenticated-orcid":false,"given":"Camerun","family":"Washington","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9536-4621","authenticated-orcid":false,"given":"Elliot S.","family":"Stolerman","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica A.","family":"Cooley\u2010Coleman","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie R.","family":"Jones","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangwen","family":"Chen\u2010Deutsch","sequence":"additional","affiliation":[{"name":"PerkinElmer Genomics  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.012"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.12.006"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12223"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"1999","author":"Scheuerle AE","key":"e_1_2_10_6_1"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2020.00123"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2012","author":"Oliveira J","key":"e_1_2_10_8_1"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.04.007"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-25"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23599"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12366"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.001"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0730-8"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.7165","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T14:01:44Z","timestamp":1764252104000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.7165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1002\/ccr3.7165"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.7165","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"2023-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e7165"}}