Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Umut AltunogluAdrian Palencia-CamposNilay GüneşGozde Tutku TurgutJulian NevadoPablo LapunzinaMaria ValenciaAsier IturrateGhada OtaifyRasha ElhossiniAdel AshourAsmaa K AminRania F ElnahasElisa Fernandez-NuñezCarmen-Lisset FloresPedro AriasJair TenorioCarlos Israel Chamorro FernándezYeliz GüvenElif ÖzsuBeray Selver EklioğluMarisol Ibarra-RamirezBirgitte Rode DinessBiruté BurnytéHouda AjmiZafer YükselRuken YıldırımEdip ÜnalEbtesam AbdallaMona AglanHulya KayseriliBeyhan TüysüzVictor Ruiz-PérezPublished in: Journal of medical genetics (2024)
to the list of genes associated with EvC-like phenotypes.
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