{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T22:46:12Z","timestamp":1780613172808,"version":"3.54.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T00:00:00Z","timestamp":1733616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/08028\u20101"],"award-info":[{"award-number":["2013\/08028\u20101"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303375\/2019\u20101"],"award-info":[{"award-number":["303375\/2019\u20101"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Split hand\u2010foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and\/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings. Structural variants and point mutations in genes associated with SHFM were identified in all individuals. Our results highlight genetic heterogeneity observed in this group of skeletal disorders, alongside incomplete penetrance, a challenging task imposed on genetic counseling. Of note, an individual harboring a recurrent heterozygous variant in <jats:italic>MAP3K20<\/jats:italic> presented a phenotype reminiscent of <jats:italic>TP63\u2010<\/jats:italic>related disorders, contrary to the one recently reported in the literature with prominent facial dysmorphisms, expanding the phenotypic spectrum of this newly recognized syndromic form of SHFM.<\/jats:p>","DOI":"10.1111\/cge.14666","type":"journal-article","created":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T02:29:51Z","timestamp":1733711391000},"page":"453-457","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Split Hand\u2010Foot Malformations\u2014Unveiling Unique Molecular Diagnosis From a Brazilian Cohort"],"prefix":"10.1111","volume":"107","author":[{"given":"Eduardo Da","family":"C\u00e1s","sequence":"first","affiliation":[{"name":"Clinical Genetics, Instituto da Crian\u00e7a Hospital das Cl\u00ednicas da Faculdade de 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