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

Overview of attention for article published in Journal of Medical Genetics, March 2013

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Journal of Medical Genetics (JMG), 09 Dec 2021

Advent Quiz 9 🎄: Clue: May present with respiratory distress in the #neonatal…

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