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Title:

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Document type:
Article; Journal Article
Author(s):
Pozojevic, Jelena; Parenti, Ilaria; Graul-Neumann, Luitgard; Ruiz Gil, Sara; Watrin, Erwan; Wendt, Kerstin S; Werner, Ralf; Strom, Tim M; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J
Abstract:
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte...     »
Journal title abbreviation:
Eur J Med Genet
Year:
2018
Journal volume:
61
Journal issue:
11
Pages contribution:
680-684
Fulltext / DOI:
doi:10.1016/j.ejmg.2017.11.004
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29155047
Print-ISSN:
1769-7212
TUM Institution:
Institut für Humangenetik
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