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More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.
Pimienta, Allen L; Wilcox, William R; Reinstein, Eyal.
Affiliation
  • Pimienta AL; Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Medical Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Am J Med Genet A ; 161A(12): 3126-9, 2013 Dec.
Article in En | MEDLINE | ID: mdl-24039088
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Diagnosis, Differential / ADAM Proteins / Weill-Marchesani Syndrome Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Affiliation country: Israel Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Diagnosis, Differential / ADAM Proteins / Weill-Marchesani Syndrome Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Affiliation country: Israel Country of publication: United States