Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The syndrome of achondroplasia and severe combined immunodeficiency appears to be a recessive disorder whose genetic background has to be characterized. It was first described among the Amish people.
| 1. |
MacDermot KD et al. (1991) Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. 
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| 2. |
Ammann AJ et al. (1974) Antibody-mediated immunodeficiency in short-limbed dwarfism.
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| 3. |
Say B et al. (1972) Thymic dysplasia associated with dyschondroplasia in an infant.
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| 4. |
Alexander WJ et al. (1968) [Unusual bone changes in thymic alymphoplasia].
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| 5. |
Gatti RA et al. (1969) Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.
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| 6. |
McKusick VA et al. (1966) Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships.
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| 7. |
Orphanet article Orphanet ID 935
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| 8. |
OMIM.ORG article Omim 200900
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