{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:25:18Z","timestamp":1786976718790,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T00:00:00Z","timestamp":1505174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Centre for Applied Genomics for technical assistance and expertise"},{"name":"The University of Toronto McLaughlin Centre"},{"name":"Canadian \u201cRare Diseases: Models & Mechanisms\u201d Network (RDMM)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first\u2010cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A&gt;C, predicting p.Asp317Ala, in the H.20\u2010Like Homeobox 1 (\n                      <jats:italic>HLX1<\/jats:italic>\n                      ) gene.\n                      <jats:italic>HLX<\/jats:italic>\n                      is a homeobox transcription factor gene which is relatively conserved across species.\n                      <jats:italic>Hlx<\/jats:italic>\n                      homozygous null mice have a short bowel and reduced muscle cells in the diaphragm, closely resembling the anomalies in the two fetuses and we therefore suggest that the\n                      <jats:italic>HLX<\/jats:italic>\n                      mutation in this family could explain the fetal findings.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38354","type":"journal-article","created":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T12:16:58Z","timestamp":1505218618000},"page":"3070-3074","source":"Crossref","is-referenced-by-count":12,"title":["<i>HLX<\/i>\n                    is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1015-5255","authenticated-orcid":false,"given":"Sandra A.","family":"Farrell","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Trillium Health Partners Mississauga Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandi","family":"Sodhi","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Trillium Health Partners Mississauga Ontario 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