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Titel:

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

Dokumenttyp:
Article; Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Eur J Med Genet
Jahr:
2018
Band / Volume:
61
Heft / Issue:
11
Seitenangaben Beitrag:
680-684
Volltext / DOI:
doi:10.1016/j.ejmg.2017.11.004
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29155047
Print-ISSN:
1769-7212
TUM Einrichtung:
Institut für Humangenetik
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