Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
Author:
Katarina Lindahl,Eva Åström,Anca Dragomir,Sofie Symoens,Paul Coucke,Sune Larsson,Eleftherios Paschalis,Paul Roschger,Sonja Gamsjaeger,Klaus Klaushofer,Nadja Fratzl-Zelman,Andreas Kindmark
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