09
Apr
Lamb-Shaffer syndrome (LSS) chromosome 12p12.1 deletion
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Lamb-Shaffer syndrome (LSS) is characterized by intellectual disability, behavioral problems, microcephaly and facial dysmorphism. Strabismus, scoliosis and mild skeletal defects may be found in several individuals. LSS was reported in patients having small deletions in the short arm of chromosome 12 (12p12.1). Deletions in all these patients involved the SOX5... Read More