Publication: Recessive mutations in SCNM1 are a new cause of orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia
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KU-Authors
KU Authors
Co-Authors
Iturrate, Asier
Rivera-Barahona, Ana
Flores, Carmen-Lisset
Aotaify, Ghada
Elhossini, Rasha
Perez-Sanz, Marina L.
Nevado, Julian
Tenorio, Jair
Carlos Trivino, Juan
Garcia-Gonzalo, Francesc R.
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Abstract
BAKILACAK
Source
Publisher
Springernature
Subject
Medicine
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Source
European Journal of Human Genetics
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