{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:16:32Z","timestamp":1788315392384,"version":"build-2803163510"},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T00:00:00Z","timestamp":1784419200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T00:00:00Z","timestamp":1784419200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    RASopathies comprise a group of congenital malformation syndromes with predominant neuro\u2010cardio\u2010facial\u2010cutaneous involvement resulting from pathogenic variants in RAS\/mitogen\u2010activated protein kinase (MAPK) signaling pathway genes. In this study 33 patients are presented with their clinical and molecular findings as an RASopathy cohort including a family with an\n                    <jats:italic>AMMECR1<\/jats:italic>\n                    \u2010related disorder. The diagnostic distribution of the cohort included Noonan syndrome (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200918), neurofibromatosis type 1 (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20098), and single cases of cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis\u2010Noonan syndrome, NF1 microdeletion syndrome, Noonan syndrome\u2010like disorder with loose anagen hair, Noonan syndrome with multiple lentigines and\n                    <jats:italic>AMMECR1<\/jats:italic>\n                    \u2010related midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MIM# 300990). The most prevalent clinical manifestations were dermatological findings (90.9%), skeletal features (84.4%), cardiovascular involvement (75.8%), and typical craniofacial dysmorphism suggestive of RASopathy (72.7%). Variants were most frequently identified in\n                    <jats:italic>PTPN11<\/jats:italic>\n                    and\n                    <jats:italic>NF1<\/jats:italic>\n                    , followed by single cases involving the\n                    <jats:italic>BRAF<\/jats:italic>\n                    ,\n                    <jats:italic>HRAS<\/jats:italic>\n                    ,\n                    <jats:italic>LZTR1<\/jats:italic>\n                    ,\n                    <jats:italic>RAF1<\/jats:italic>\n                    ,\n                    <jats:italic>RIT1<\/jats:italic>\n                    ,\n                    <jats:italic>SHOC2<\/jats:italic>\n                    , and\n                    <jats:italic>SOS1<\/jats:italic>\n                    . Notably, one patient harbored a variant in\n                    <jats:italic>AMMECR1<\/jats:italic>\n                    , which is not involved in the RAS\/MAPK pathway. Overall, this study delineates the clinical and molecular landscape of a cohort from T\u00fcrkiye and underscores that the\n                    <jats:italic>AMMECR1<\/jats:italic>\n                    \u2010related phenotype represents a distinct entity that closely mimics Noonan syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.70217","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T03:06:08Z","timestamp":1784516768000},"page":"471-479","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Molecular Characterization of a\n                    <scp>RASopathy<\/scp>\n                    Cohort From T\u00fcrkiye and an\n                    <i>AMMECR1<\/i>\n                    \u2010Related Noonan Syndrome\u2010Mimicking Phenotype"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5074-8071","authenticated-orcid":false,"given":"Esma Nur Konur","family":"Akba\u015f","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics Basaksehir Cam and Sakura City Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8103-9980","authenticated-orcid":false,"given":"G\u00fcven","family":"Toksoy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9545-6657","authenticated-orcid":false,"given":"\u015eahin","family":"Avc\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics, School of Medicine Koc University, KUSOM  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-5368","authenticated-orcid":false,"given":"Umut","family":"Altuno\u011flu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics, School of Medicine Koc University, KUSOM  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tu\u011fba","family":"Kalayc\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1964-6306","authenticated-orcid":false,"given":"G\u00f6zde Ye\u015fil","family":"Say\u0131n","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics, Faculty of Medicine Istanbul Atlas University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics, School of Medicine Koc University, KUSOM  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2035-4338","authenticated-orcid":false,"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul 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