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Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type
2018
Belinda Campos-Xavier
R. Curtis Rogers
Florence Niel-Bütschi
Catarina Ferreira
Sheila Unger
Jürgen W. Spranger
Andrea Superti Furga
Keywords:
Endocrinology
Internal medicine
Joint laxity
Metaphyseal dysplasia
Anatomy
Biology
Genetics
spondylo epi metaphyseal dysplasia
Pathology
Genetic testing
Comparative genomic hybridization
Genetic variation
Correction
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