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Small supernumerary marker chromosomes (sSMC) derived from chromosome 16 are rare and, so far, it is not yet clear which regions of chromosome 16 are critical and have clinical consequences. We have(More)
There are several described anatomical variants of the cervical spine, ranging from common to extremely rare, which may have different clinical implications. We present the case of an extremely rare(More)
Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a(More)