996 resultados para Arabin, John William (17..-17..) -- Portraits


Relevância:

40.00% 40.00%

Publicador:

Resumo:

Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with familial dominant post-axial polydactyly (PAP) type A, overgrowth, significant facial dysmorphisms and autistic traits who carries the smallest germline microduplication known so far in that region. The microduplication encompasses the whole miR17∼92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17∼92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development.

Relevância:

40.00% 40.00%

Publicador:

Resumo:

Kirje 17.2.1932

Relevância:

40.00% 40.00%

Publicador:

Resumo:

Kirje 17.11.1942

Relevância:

40.00% 40.00%

Publicador:

Resumo:

Kirje 17.5.1974

Relevância:

40.00% 40.00%

Publicador:

Resumo:

Kirje

Relevância:

40.00% 40.00%

Publicador:

Resumo:

Kirje 17.11.1964