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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Detalles Bibliográficos
Autores principales:	Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2016
Materias:	Short Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772811/ https://www.ncbi.nlm.nih.gov/pubmed/26641461 http://dx.doi.org/10.1097/MCD.0000000000000110

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