{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T04:36:25Z","timestamp":1780547785597,"version":"3.54.1"},"reference-count":9,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T00:00:00Z","timestamp":1712880000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T00:00:00Z","timestamp":1712880000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Congenital diarrhea presents a diagnostic challenge in cases where standard assessments are inconclusive. Case Presentation: We report a female infant with thrombocytopenia, increased bone density, and pale optic disc symptoms, suggestive of osteopetrosis. However, she also exhibited noninfectious, blood- and mucus-free diarrhea, not accounted for by osteopetrosis. Genetic testing, including clinical exome sequencing and chromosomal microarray analysis, revealed a homozygous 39-kb deletion on chromosome 16p13.3. This deletion spanned the CLCN7 gene associated with osteopetrosis and the PERCC1 gene implicated in congenital diarrhea. Conclusion: This case illustrates the importance of considering 16p13.3 deletions when confronted with the dual presentation of congenital diarrhea and osteopetrosis, expanding the diagnostic considerations for similar clinical presentations. <\/jats:p>","DOI":"10.1159\/000538395","type":"journal-article","created":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T21:00:38Z","timestamp":1712955638000},"page":"427-431","source":"Crossref","is-referenced-by-count":2,"title":["A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes"],"prefix":"10.1159","volume":"15","author":[{"given":"Semih","family":"Sandal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulsum","family":"Kayhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek","family":"Kahvecioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Vezir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Kilic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aslihan","family":"K\u00f6se","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melda","family":"Tas Ersun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Turan","family":"Derme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuf","family":"Bahap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selim","family":"Dereci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samil","family":"Hizli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,4,12]]},"reference":[{"key":"ref1"},{"key":"ref2"},{"key":"ref3"},{"key":"ref4"},{"key":"ref5"},{"key":"ref6"},{"key":"ref7"},{"key":"ref8"},{"key":"ref9"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/5\/427\/4284209\/000538395.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/5\/427\/4284209\/000538395.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:12:26Z","timestamp":1745421146000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000538395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,12]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,10,1]]},"published-print":{"date-parts":[[2024,10,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000538395","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,12]]}}}