A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
<p>Abstract</p> <p>Background</p> <p>A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had...
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स्वरूप: | पुस्तक |
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BMC,
2010-11-01T00:00:00Z.
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बोधानक: |
A1234.567 |
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प्रति 1 | उपलब्ध |