New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference75 articles.
1. Clinical genetics and pathobiology of ciliary chondrodysplasias;Schmidts;J. Pediatr. Genet.,2014
2. Asphyxiating thoracic dysplasia. clinical, radiological, and pathological information on 10 patients;Oberklaid;Arch. Dis. Child.,1977
3. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families;Baujat;J. Med. Genet.,2013
4. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (jeune syndrome) without major polydactyly, renal or retinal involvement;Schmidts;J. Med. Genet.,2013
5. Asphyxiating thoracic dystrophy with familial characteristics;JEUNE;Arch. Fr. Pediatr.,1955
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