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

ABSTRACT:

SUBMITTER: Kroigard AB 

PROVIDER: S-EPMC4772811 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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

Krøigård Anne B AB   Jackson Andrew P AP   Bicknell Louise S LS   Baple Emma E   Brusgaard Klaus K   Hansen Lars K LK   Ousager Lilian B LB  

Clinical dysmorphology 20160401 2

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