X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and ma...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2013
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4015352/
https://ncbi.nlm.nih.gov/pubmed/24053514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-146
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk