Publicaciones científicas

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): Four additional patients without mental retardation and review of the literature

Third case of 8q23.3-q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion†

Long-term follow-up of four patients with langer–giedion syndrome: Clinical course and complications

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

Incidence of numerical variants and transitional lumbosacral vertebrae on whole-spine MRI

Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]

Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review

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