A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
| Autor: | Ruth Newbury-Ecob, Simon J. Lee, Karen Low, James Smith |
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| Rok vydání: | 2012 |
| Předmět: |
Foot Deformities
Congenital media_common.quotation_subject Mothers Nuclear Family Pectus excavatum Hypoplastic thumb Genetics Medicine Humans Genetics (clinical) media_common Daughter Comparative Genomic Hybridization Hyperphalangism business.industry fungi Brachydactyly Infant Newborn Preaxial brachydactyly Anatomy medicine.disease Phenotype Funnel Chest Female business Hand Deformities Congenital Foot (unit) |
| Zdroj: | American journal of medical genetics. Part A. (8) |
| ISSN: | 1552-4833 |
| Popis: | A mother and daughter with an overlapping Catel–Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. © 2013 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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