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

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Bibliografiske detaljer
Udgivet i:Clin Dysmorphol
Main Authors: Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2016
Fag:
Short Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772811/
https://ncbi.nlm.nih.gov/pubmed/26641461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MCD.0000000000000110
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