Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardi...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Pediatr Genet
Autors principals: Bruni, Valentina, Scozzafava, Cristina, Gnazzo, Maria, Parisi, Francesca, Sestito, Simona, Pensabene, Licia, Novelli, Antonio, Concolino, Daniela
Format: Artigo
Idioma:Inglês
Publicat: Georg Thieme Verlag KG 2021
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853907/
https://ncbi.nlm.nih.gov/pubmed/33552639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1701645
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars