{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:03:35Z","timestamp":1790708615160,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    GZF1\u2010related phenotype (GZF1RP) has been referred to by different names, including autosomal recessive Larsen syndrome (LRS) and \u201cjoint laxity, short stature, and myopia\u201d. Only ten patients from five families have been reported, all of whom carry biallelic variants of\n                    <jats:italic>GZF1<\/jats:italic>\n                    . They share short stature and joint dislocation with LRS; however, they present with severe ocular manifestations, suggesting that GZF1RP may be specific. In this study, we described three new patients with severe ophthalmologic phenotypes, including congenital glaucoma and abnormal iris morphology. We identified the\n                    <jats:italic>GZF1<\/jats:italic>\n                    : c.1440del (p.His481IlefsTer26) variant in homozygosity in two affected sisters and compound heterozygosity in the third patient: the same c.1440del plus c.1451_1452del (p.Cys484fs). In addition to expanding the molecular spectrum, we identified new radiological findings, such as cervical segmentation defects, carpal shortening, and lower lumbar sacralization, as well as some clinical findings uncommon in previous cases, such as umbilical hernia and congenital heart disease. We also searched for LRS case series with pathogenic variants in\n                    <jats:italic>FLNB<\/jats:italic>\n                    to identify differences between the two entities. The comparison allows us to define a recognizable GZF1RP that includes severe ocular defects, short stature, facial dysmorphism, joint hypermobility\/dislocations, scoliosis, thoracic deformity, progressive hearing loss, umbilical hernia, and hypodontia.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70207","type":"journal-article","created":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T09:35:13Z","timestamp":1779442513000},"page":"2309-2319","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Genetic and Clinical Spectrum of\n                    <scp>\n                      <i>GZF1<\/i>\n                    <\/scp>\n                    \u2010Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3150-583X","authenticated-orcid":false,"given":"Emiy","family":"Yokoyama\u2010Rebollar","sequence":"first","affiliation":[{"name":"Human Genetics Department National Institute of Pediatrics  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilo E.","family":"Villarroel","sequence":"additional","affiliation":[{"name":"Human Genetics Department National Institute of Pediatrics  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Barrag\u00e1n\u2010Ar\u00e9valo","sequence":"additional","affiliation":[{"name":"Genetics Department Hospital Infantil de M\u00e9xico \u201cFederico G\u00f3mez\u201d  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6274-6041","authenticated-orcid":false,"given":"Oscar Francisco","family":"Chac\u00f3n\u2010Camacho","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Laboratorio 5\u2010Gen\u00e9tica, Edificio 4\u2010A, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala UNAM  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana Cristina","family":"Orozco\u2010\u00c1vila","sequence":"additional","affiliation":[{"name":"Human Genetics Department National Institute of Pediatrics  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Leal\u2010Anaya","sequence":"additional","affiliation":[{"name":"Human Genetics Department National Institute of Pediatrics  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"del Castillo\u2010Ruiz","sequence":"additional","affiliation":[{"name":"Human Genetics Department National Institute of Pediatrics  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9716-8146","authenticated-orcid":false,"given":"Juan Carlos","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Rare Diseases Diagnostic Unit and Department of Biochemistry, Faculty of Medicine UNAM  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,22]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101332"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043687"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.60"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61849"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2007.07.003"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000537869"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309629200"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0290-6"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.006"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2014.985847"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki734"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.008"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-65227-6"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2010.09.015"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13856"}],"container-title":["American 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