DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

DPH1 variants have been associated with an ultra-rare and severe neurodevelopmental disorder, mainly characterized by variable developmental delay, short stature, dysmorphic features, and sparse hair. We have identified four new patients (from two different families) carrying novel variants in DPH1,...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906407/
https://ncbi.nlm.nih.gov/pubmed/30877278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0374-9
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