Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Schulz, Solveig, Mensah, Martin A., de Vries, Heike, Fröber, Rosemarie, Romeike, Bernd, Schneider, Uwe, Borte, Stephan, Schindler, Detlev, Kentouche, Karim
Formato: Artigo
Idioma:Inglês
Publicado: Springer International Publishing 2018
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117362/
https://ncbi.nlm.nih.gov/pubmed/29760432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0128-0
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares