Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus

(2011) M. Okada et al.   CLINICAL NEPHROLOGY

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

(2009) Nathalie Dagoneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

(2009) Beyhan Tüysüz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

(2009) J. de Vries et al.   EUROPEAN JOURNAL OF PEDIATRICS

Late respiratory failure in Jeune syndrome

(2009) Piet Leroy et al.   EUROPEAN JOURNAL OF PEDIATRICS

Identification and characterization of a long isoform of human IFT80, IFT80-L

(2008) Weihua Huang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Jeune syndrome

(2008) M B O'Connor et al.   POSTGRADUATE MEDICAL JOURNAL

Jeune's syndrome (asphyxiating thoracic dystrophy): congenital and acquired

(2008) J. Duncan Phillips et al.   Seminars in Pediatric Surgery