Article
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.
Molecular medicine (Cambridge, Mass.) - 7 Apr 2026
Koparir Asuman, Carbajal Paulina Bahena, Zamini Mina, Naghinejad Maryam, Najarzadeh Torbati Paria, Hofrichter Michaela A H, Tovornik Stefanie, Koparir Erkan, Dragicevic Babic Neda, Rad Aboulfazl, Owrang Daniel, Kalay Irem, Chamanrou Niloofar, Martínez Völter Luis Nicolás, Christophersen Nele, Baranzehi Tayebeh, Rajati Mohsen, Loum Stephen, Kunstmann Erdmute, Shadab Madiha, Abbasi Ansar Ahmed, Doosti Mohammad, Alidadiani Neda, Ghaderi Shahrooz, Haack Tobias B, Alavi Shahryar, Doll Julia, Kremer Hannie, Kordi-Tamandani Dor Mohammad, Murphy David, Mohammad Rahema, Hebestreit Helge, Ghayoor Karimiani Ehsan, Flandin Sophie, Linares Paola, Villalobos Daniel, Houlden Henry, Galehdari Hamid, Shehata-Dieler Wafaa, Maroofian Reza, Haaf Thomas, Vona Barbara
Abstract excerpt
BACKGROUND: Hearing loss (HL) is one of the most common congenital conditions and exhibits substantial clinical and genetic heterogeneity. More than 150 genes are associated with non-syndromic hearing loss (NSHL), while over 600 genes are linked to syndromic hearing loss (SHL). Importantly, the absence of additional clinical symptoms at the time of diagnosis does not necessarily exclude SHL. An increasing number...
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