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Fletta eftir efnisorði "Kabuki syndrome"

Fletta eftir efnisorði "Kabuki syndrome"

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    Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome 
    Theodore‐Oklota, Christina; Egan, Shayna; Paulich, Maggie; Evans, Christopher J.; Hartman, Deborah S.; Hoffman, Deborah L.; Bjornsson, Hans (Wiley, 2020-04-04)
    Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio-emotional delays. The condition is largely unknown by most primary care physicians and has no available ...
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    KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans 
    Kalinousky, Allison J.; Luperchio, Teresa R.; Schrode, Katrina M.; Harris, Jacqueline R.; Zhang, Li; DeLeon, Valerie B.; Fahrner, Jill A.; Lauer, Amanda M.; Björnsson, Hans Tómas (2024-01)
    Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural ...
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    A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada 
    Theodore-Oklota, Christina; Hartman, Deborah S.; Hoffman, Deborah L.; Björnsson, Hans Tómas (2022-01)
    Introduction: Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad abnormalities, and developmental delays, as well as a range of other health issues. Existing ...