Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Ben-Salem, S., Robbins, S. M., LM Sobreira, N., Lyon, A., Al-Shamsi, A. M., Islam, B. K., Akawi, N. A., John, A., Thachillath, P., Al Hamed, S., Valle, D., Ali, B. R., Al-Gazali, L.
BMJ Publishing Group
Published 2018
BMJ Publishing Group
Published 2018
Publication Date: |
2018-01-25
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Publisher: |
BMJ Publishing Group
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Print ISSN: |
0022-2593
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Electronic ISSN: |
1468-6244
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Topics: |
Medicine
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Published by: |