{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:31:04Z","timestamp":1747193464912,"version":"3.40.5"},"reference-count":16,"publisher":"S. Karger AG","issue":"1-4","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in delineating a clinical diagnosis. Pedigree analysis has been a long-standing practice in the field of medical genetics to discover familial diseases. In recent years, whole exome sequencing (WES) has proven to be a useful tool for aiding physicians in diagnosing and understanding disease etiology. This report shows that pedigree analysis and WES are co-dependent processes in establishing diagnoses in a family with 4 different genetic disorders: Birt-Hogg-Dub\u00e9 Syndrome, &lt;i&gt;RRM2B&lt;\/i&gt;-related mitochondrial disease, &lt;i&gt;CDC73&lt;\/i&gt;-related primary hyperparathyroidism, and familial prostate cancer. <\/jats:p>","DOI":"10.1159\/000519356","type":"journal-article","created":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T22:00:48Z","timestamp":1639519248000},"page":"28-33","source":"Crossref","is-referenced-by-count":1,"title":["Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases"],"prefix":"10.1159","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0467-6732","authenticated-orcid":false,"given":"Karishma","family":"Mahtani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Abbott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavalan\u00a0Panneer","family":"Selvam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8515-744X","authenticated-orcid":false,"given":"Paldeep\u00a0S.","family":"Atwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,10,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e3182310bcf"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a003392"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa074311"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1235-2"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0519-z"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.009"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1015"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws231"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-9-r92"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1021\/jm00076a015"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.09.044"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208274"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/ng1048"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa031237"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027130"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.l2270"}],"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519356","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519356","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:25:04Z","timestamp":1745421904000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000519356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":16,"journal-issue":{"issue":"1-4","published-online":{"date-parts":[[2021,12,14]]},"published-print":{"date-parts":[[2021,12,27]]}},"URL":"https:\/\/doi.org\/10.1159\/000519356","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"type":"print","value":"0001-5652"},{"type":"electronic","value":"1423-0062"}],"subject":[],"published":{"date-parts":[[2021]]}}}