{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T13:44:25Z","timestamp":1793627065359,"version":"4.5.1"},"reference-count":9,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data. Patients with HH prospectively referred to a hypophosphatemia program for genetic testing were included. Saliva samples were evaluated by next\u2010generation sequencing with a panel of 13 genes associated with HH. In patients with no variants detected in the HH rickets related gene panel, multiplex ligation\u2010dependent probe amplification was performed for the\n                    <jats:italic>PHEX<\/jats:italic>\n                    gene. Cascade genetic testing was recommended for at\u2010risk relatives of index cases (IC). One hundred and sixty participants were enrolled, including 129 ICs with suspected HH (80.62%). Among them, 114 had a positive molecular test (88.37%); 93% were variations in the\n                    <jats:italic>PHEX<\/jats:italic>\n                    gene, predominantly single\u2010nucleotide variants. Distribution of variant types was consistent with international databases. In our sample, 12% of subjects had undetectable variants in the gene panel, highlighting the importance of complete genome sequencing. Ours is the first study in Latin America to analyze\n                    <jats:italic>PHEX<\/jats:italic>\n                    variants, which is considered crucial for the generation of regional evidence to understand the genetic variability of HH and for leading specific targeted treatment.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70259","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T02:31:54Z","timestamp":1785897114000},"page":"2745-2749","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Characterization and Analysis of\n                    <scp>\n                      <i>PHEX<\/i>\n                    <\/scp>\n                    Variants in Patients With Hypophosphatemia in Argentina"],"prefix":"10.1002","volume":"200","author":[{"given":"Silvia","family":"\u00c1vila","sequence":"first","affiliation":[{"name":"Facultad de Ciencias M\u00e9dicas Universidad Nacional del Comahue  Cipoletti Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Ultragenyx  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximiliano","family":"Zeballos","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n para el Progreso de la Medicina  C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Georgina","family":"Poggio","sequence":"additional","affiliation":[{"name":"Ultragenyx  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101014\u20108"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1714641"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010021\u201005328\u2010w"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgae785"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00590\u2010014\u20101496\u2010y"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4454"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24296"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2016.164"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70259","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70259","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70259","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T13:14:03Z","timestamp":1793625243000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,4]]},"references-count":9,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["10.1002\/ajmg.a.70259"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70259","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,4]]},"assertion":[{"value":"2025-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}