Abstract |
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Authors | Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nishimura, Jürgen Spranger, Bernhard Zabel, Andrea Superti-Furga |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 82
Issue 6
Pg. 1368-74
(Jun 2008)
ISSN: 1537-6605 [Electronic] United States |
PMID | 18513679
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Chondroitin Sulfate Proteoglycans
- Sulfotransferases
- carbohydrate sulfotransferases
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Topics |
- Adolescent
- Adult
- Bone Diseases, Developmental
(enzymology, genetics)
- Child
- Child, Preschool
- Chondroitin Sulfate Proteoglycans
(chemistry, metabolism)
- Dysostoses
(enzymology, genetics)
- Female
- Genes, Recessive
- Humans
- Humerus
(abnormalities)
- Infant, Newborn
- Joint Dislocations
(congenital, enzymology, genetics)
- Male
- Mutation
- Osteochondrodysplasias
(enzymology, genetics)
- Phenotype
- Spine
(abnormalities)
- Sulfotransferases
(deficiency, genetics)
- Syndrome
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