{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T13:20:15Z","timestamp":1783948815736,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T00:00:00Z","timestamp":1754611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report two female siblings, a 13\u2010month\u2010old and a newborn, with multiple anomalies including hypoplastic kidneys, severe growth restriction, facial dysmorphism, and alopecia, both found to be homozygous for the c.587\u2009T&gt;C variant in\n                    <jats:italic>ZPR1<\/jats:italic>\n                    . Their clinical features are strikingly similar to those previously reported in a patient who was homozygous for the same variant.\u2009Our report confirms that homozygosity for c.587\u2009T&gt;C in\n                    <jats:italic>ZPR1<\/jats:italic>\n                    underlies a novel genetic syndrome with autosomal recessive inheritance and that c.587\u2009T&gt;C is a founder variant for\n                    <jats:italic>ZPR1<\/jats:italic>\n                    disorder in the Middle Rio Grande Valley. We expand our understanding of the phenotype by describing abnormal glucose homeostasis, growth hormone resistance, and progressive liver disease with decompensated portal hypertension and esophageal varices despite the absence of cirrhosis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64203","type":"journal-article","created":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T07:24:06Z","timestamp":1754637846000},"page":"162-170","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis:\u2009Confirmation of a New Syndrome Caused by Biallelic Variants in\n                    <scp>\n                      <i>ZPR1<\/i>\n                    <\/scp>"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1772-8386","authenticated-orcid":false,"given":"Kiley","family":"Quintana","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of New Mexico  Albuquerque NM USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Hutchison","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of New Mexico  Albuquerque NM USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of New Mexico  Albuquerque NM USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razan","family":"Alkhouri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of New Mexico  Albuquerque NM 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