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Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

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


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
216 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Jeune asphyxiating thoracic dystrophy an
โœ Ho, Nicola C.; Francomano, Clair A.; van Allen, Margot ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anom