Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome

Abstract excerpt

The clinical and laboratory combination of recurrent infections due to antibody deficiency, spondyloepiphyseal dysplasia, growth retardation and retinal dystrophy is novel. Four patients with strikingly similar phenotypes from three different families of diverse genetic backgrounds are described, suggesting a similar underlying genotype. Increased awareness of this syndrome will hopefully lead to the description...

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