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

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1021-1032

  Keppler Noreuil, Kim M ^a   Adam, Margaret P ^b   Welch, Judy ^a   Muilenburg, Ann ^a   Willing, Marcia C ^c  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Asphyxiating thoracic dystrophy; Jeune syndrome; Primary cilium; Thoracic pelvic phalangeal dystrophy; Variable phenotype

Indexed keywords

AGE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; BONE RADIOGRAPHY; BRACHYDACTYLY; CAUSE OF DEATH; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; HUMAN; JEUNE SYNDROME; KIDNEY DISEASE; KIDNEY FAILURE; LIVER DISEASE; MALE; MEDICAL LITERATURE; MICROMELIA; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREAS DISEASE; POLYDACTYLY; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; RETINA DISEASE; RETINA MALFORMATION; SCHOOL CHILD; SHORT STATURE; THORAX DEFORMITY;

CHILD; CHILD, PRESCHOOL; ELLIS-VAN CREVELD SYNDROME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 79955035357     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33892     Document Type: Article

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