Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf–Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb. This deletion contains the FGFRL1 gene, but does not include the WHSC1 gene. Given its expr...

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Detalhes bibliográficos
Main Authors: Engbers, Hannelie, van der Smagt, Jasper J, van ‘t Slot, Ruben, Vermeesch, Joris R, Hochstenbach, Ron, Poot, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985965/
https://ncbi.nlm.nih.gov/pubmed/18830230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.168
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