Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

Authors :: Campos-Xavier B
Rogers RC
Niel-Bütschi F
Ferreira C
Unger S
Spranger J
Superti-Furga A
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2934-2935. Date of Electronic Publication: 2018 Oct 04.
Publication Year :: 2018

Subjects :: Child
Comparative Genomic Hybridization
Female
Genetic Testing
Humans
Male
Mutation
Phenotype
Radiography
GTP-Binding Proteins genetics
Genetic Variation
Joint Instability diagnosis
Joint Instability genetics
Osteochondrodysplasias diagnosis
Osteochondrodysplasias genetics

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