Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Lehman, A M; Eydoux, P; Doherty, D; Glass, I A; Chitayat, D; Chung, B Y H; Langlois, S; Yong, S L; Lowry, R B; Hildebrandt, F; Trnka, P

Lehman, A M; Eydoux, P; Doherty, D; Glass, I A; Chitayat, D; Chung, B Y H; Langlois, S; Yong, S L; Lowry, R B; Hildebrandt, F; Trnka, P.

Affiliation

Lehman AM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Am J Med Genet A ; 152A(6): 1411-9, 2010 Jun.

Article in En | MEDLINE | ID: mdl-20503315

Subject(s)

Abnormalities, Multiple/genetics; Asphyxia/genetics; Ciliary Motility Disorders/genetics; Thorax/abnormalities; Abnormalities, Multiple/diagnosis; Asphyxia/diagnosis; Child; Ciliary Motility Disorders/diagnosis; Female; Genes; Homozygote; Humans; Magnetic Resonance Imaging; Male; Radiography, Thoracic; Sequence Analysis, DNA; Syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Asphyxia / Thorax / Abnormalities, Multiple / Ciliary Motility Disorders Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: Canada

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