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

Title:
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Involved:
Schmidts, Miriam (Verfasser) ; Arts, Heleen H. (Verfasser); Lausch, Ekkehart (Verfasser) ; Mitchison, Hannah M. (Verfasser)
Published:
Freiburg : Universität, 2019
Scope:
1 Online-Ressource
Format:
eBook
Language:
English
Notes:
Journal of medical genetics. - 50, 5 (2013) , 309-323, ISSN: 1468-6244
DOI:
10.1136/jmedgenet-2012-101284

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