Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
Katarina Lindahl,
Eva Åström,
Anca Dragomir,
Sofie Symoens,
Paul Coucke,
Sune Larsson,
Eleftherios P. Paschalis,
Paul Roschger,
Sonja Gamsjaeger,
Klaus Klaushofer,
Bone · 2018 · 32 citations · 44 references