{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:12:27Z","timestamp":1790651547225,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"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":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>RPL13<\/jats:italic>\n                    \u2010related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9\u2010year\u2010old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous\n                    <jats:italic>RPL13<\/jats:italic>\n                    c.477+1G&gt;A (IVS4+1G&gt;A) pathogenic variant. This is the first identified case of an individual with an\n                    <jats:italic>RPL13<\/jats:italic>\n                    \u2010related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg\u2013Calve\u2013Perthes\u2010like disease. This case expands the phenotype of\n                    <jats:italic>RPL13<\/jats:italic>\n                    \u2010related disorders.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61965","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T01:30:11Z","timestamp":1606527011000},"page":"2776-2781","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Expanding the phenotypic spectrum of\n                    <scp>\n                      <i>RPL13<\/i>\n                      \u2010related\n                    <\/scp>\n                    skeletal dysplasia"],"prefix":"10.1002","volume":"185","author":[{"given":"Breann","family":"Reinsch","sequence":"first","affiliation":[{"name":"Master of Science in Genetic Counseling Program, School of Pharmacy and Health Sciences, Keck Graduate Institute Claremont California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katheryn","family":"Grand","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences and Pediatrics, UCLA School of Medicine Los Angeles California USA"},{"name":"Stanford University Stanford California USA"},{"name":"International Skeletal Dysplasia Registry California Los Angeles USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry K. W.","family":"Kim","sequence":"additional","affiliation":[{"name":"Center for Excellence in Hip, Texas Scottish Rite Hospital for Children Dallas Texas USA"},{"name":"Department of Orthopedic Surgery UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1181-7828","authenticated-orcid":false,"given":"Pedro A.","family":"Sanchez\u2010Lara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center Los Angeles California USA"},{"name":"David Geffen School of Medicine University of California, Los Angeles Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.5435\/JAAOS-D-13-00173"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.11.011"},{"key":"e_1_2_6_4_1","volume-title":"GeneReviews\u00ae","author":"Briggs M. 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