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Here we report a school-age girl harboring compound-heterozygous\n                    <jats:italic>CHRNG<\/jats:italic>\n                    variants, NM_005199.5:c.[2T&gt;C];[428C&gt;G] p.[(Met1?)];[(Pro143Arg)]. She presented with neonatal asphyxia, congenital limb contractures and low-frequency hearing loss but without pterygia, maintaining normal cognition. This case underscores the phenotypic variability of\n                    <jats:italic>CHRNG<\/jats:italic>\n                    -related disease and alerts clinicians to recognize milder presentations that lack pterygia and to consider targeted genetic testin.\n                  <\/jats:p>","DOI":"10.1038\/s41439-026-00340-8","type":"journal-article","created":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T03:35:57Z","timestamp":1773459357000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype\u2013phenotype insights"],"prefix":"10.1038","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1328-6696","authenticated-orcid":false,"given":"Jun","family":"Kido","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroe","family":"Ueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohei","family":"Misumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keishin","family":"Sugawara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzuran","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9947-3315","authenticated-orcid":false,"given":"Eriko","family":"Koshimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuharu","family":"Ueda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,14]]},"reference":[{"key":"340_CR1","unstructured":"Oboli, V. 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