Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (Q28709034)
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scientific article (publication date: May 2013)
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
scientific article (publication date: May 2013) |
Statements
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (English)
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Anna Kutkowska-Kazmierczak
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May 2013
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50
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309-23
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5
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1 reference