1,720,975 research outputs found
The first intron of the human osteopontin gene contains a C/EBP beta responsive enhancer
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Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism
No full textFurther case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia).
No full textArray-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation
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Novel mutations in the L1CAM gene support the complexity of L1 syndrome
Full text linkX-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia
Type I and X-linked partial agenesis of the corpus callosum are the four rare
diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene.
By direct sequencing of L1CAM in 16 patients, we were able to identify seven
mutations, five of which were never described before. Patients' phenotype
evaluation revealed a correlation between the number of clinical features typical
of L1 syndrome and the chance to find causative mutation. Our findings support
that L1CAM mutations are associated with widely heterogeneous phenotypes, however
the occurrence of several clinical features remains the best criterion for
planning molecular testing both in familial and apparently sporadic cases
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