The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

INTRODUCTION: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities. PATIENT CONCERNS: Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic...

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Detalles Bibliográficos
Autores principales: Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034684/
https://www.ncbi.nlm.nih.gov/pubmed/32080096
http://dx.doi.org/10.1097/MD.0000000000019169

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