Result: Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2019

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Journal of medical genetics. - 50, 5 (2013) , 309-323, ISSN: 1468-6244

*DOI*:

10.1136/jmedgenet-2012-101284

*Result*: Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement