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

CLINICAL DYSMORPHOLOGY

LIPPINCOTT WILLIAMS & WILKINS

1. MRC [MC_PC_U127580972, G1001931] Funding Source: UKRI
2. Medical Research Council [G1001931, MC_PC_U127580972] Funding Source: researchfish
3. Medical Research Council [G1001931, MC_PC_U127580972] Funding Source: Medline