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Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers
Autor:
Jose Soares, Petros Tsipouras, Teresa Costa, Klaus-Ruediger Peters, Fatima Cassia, Jordão Correa, Antonio Quelce‐Salgado, Gale R. Ramsby
Publikováno v:
American Journal of Medical Genetics. 75:523-529
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, Brazil. The phenotype is characterized by a normal axial skeleton and severely shortened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9de941f8fd6e96d1ae6372f3bb59bfa
https://doi.org/10.1002/(sici)1096-8628(19980217)75:5<523::aid-ajmg13>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980217)75:5<523::aid-ajmg13>3.0.co
