Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1411-1419

  Lehman, A M ^a   Eydoux, P ^a   Doherty, D ^b   Glass, I A ^b   Chitayat, D ^c   Chung, B Y H ^c   Langlois, S ^a   Yong, S L ^a   Lowry, R B ^d   Hildebrandt, F ^e   Trnka, P ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

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

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF CALGARY   (Canada)

^e UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Asphyxiating thoracic dystrophy; Brain malformation; Cystic kidneys; Encephalocele; Jeune syndrome; Joubert syndrome; Molar tooth sign; Renal cystic dysplasia; Skeletal dysplasia

Indexed keywords

AHI1 GENE; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DISEASE ASSOCIATION; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; HOMOZYGOSITY; HUMAN; INFANT; INVS GENE; JEUNE ASPHYXIATING THORACIC DYSTROPHY; JOUBERT SYNDROME; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SIBLING; THORAX MALFORMATION;

ABNORMALITIES, MULTIPLE; ASPHYXIA; CHILD; CILIARY MOTILITY DISORDERS; FEMALE; GENES; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; RADIOGRAPHY, THORACIC; SEQUENCE ANALYSIS, DNA; SYNDROME; THORAX;

EID: 77952759306     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33416     Document Type: Article

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