{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T17:40:43Z","timestamp":1767634843295,"version":"3.48.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"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":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Melnick\u2010Needles Syndrome (MNS; OMIM #309350) is a rare X\u2010linked dominant osteochondrodysplasia caused by\n                    <jats:italic>FLNA<\/jats:italic>\n                    gain\u2010of\u2010function variants. It is characterized by short stature, facial dysmorphism, skeletal anomalies, and systemic complications.\n                    <jats:italic>FLNA<\/jats:italic>\n                    encodes Filamin A, a cytoskeletal protein with over 90 binding partners. Variants in\n                    <jats:italic>FLNA<\/jats:italic>\n                    cause a broad spectrum of disorders, among which MNS represents one of the most severe phenotypes. Despite increasing research on MNS, many aspects of its genetic and phenotypic spectrum remain unknown. In this work, we presented two Mexican cases with a diagnosis of MNS with different\n                    <jats:italic>FLNA<\/jats:italic>\n                    missense variants p.(Leu1193Pro) and p.(Ser1199Leu). In addition, we performed a comprehensive review of the literature about\n                    <jats:italic>FLNA<\/jats:italic>\n                    variants related to MNS. This study reinforced the genetic and phenotypic complexity of MNS, emphasizing the critical role of exon 22 variants in the pathogenesis of the disease.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64246","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T12:03:41Z","timestamp":1758801821000},"page":"481-489","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>FLNA<\/i>\n                    <\/scp>\n                    Variants Related to Melnick\u2010Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0299-3048","authenticated-orcid":false,"given":"Thania","family":"Ordaz\u2010Robles","sequence":"first","affiliation":[{"name":"Research Programs Department, Shriners Children's Mexico  Mexico City 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Vinitzky","family":"Brener","sequence":"additional","affiliation":[{"name":"Stomatology Department Instituto Nacional de Enfermedades Respiratorias \u201cIsmael Cosio Villegas\u201d  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Ram\u00edrez\u2010Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Department of Immunogenetics and Allergy Instituto Nacional de Enfermedades Respiratorias  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Hortensia Valdez\u2010de","family":"la Torre","sequence":"additional","affiliation":[{"name":"Outpatient Clinic, Shriners Children's Mexico  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghalib","family":"Bardai","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children\u2010Canada  Montreal Quebec 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