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A case of concomitant autosomal recessive osteopetrosis and G6PD deficiency

โœ Scribed by Farhad Montazeri; Ghodrat Montazeri; Arash Bedayat; Nahid Sedighi


Publisher
Springer
Year
2007
Tongue
English
Weight
113 KB
Volume
87
Category
Article
ISSN
0939-5555

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๐Ÿ“œ SIMILAR VOLUMES


A mild autosomal recessive form of osteo
โœ Kahler, Stephen G. ;Burns, Jane A. ;Aylsworth, Arthur S. ;Opitz, John M. ๐Ÿ“‚ Article ๐Ÿ“… 1984 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 916 KB
Diaphragmatic hernia-exomphalos-hypertel
โœ Gripp, Karen W.; Donnai, Dian; Clericuzio, Carol L.; McDonald-McGinn, Donna M.; ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 215 KB ๐Ÿ‘ 3 views

We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed int