Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
LADD syndrome is an autosomal dominant disorder caused by mutations if the genes FGF10, FGFR3 and FGFR2. Symptoms include eye (atresia of the lacrimal system), mouth (stomatitis, difficulties to swallow), ear (anomalies of the auricle, mixed type hearing loss), teeth (caries, delayed dentation), ad fingers (syndactyly, clinodactyly).
| 1. |
Rohmann E et al. (2006) Mutations in different components of FGF signaling in LADD syndrome. 
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| 2. |
Milunsky JM et al. (2006) LADD syndrome is caused by FGF10 mutations.
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| 3. |
Shiang EL et al. (1977) The lacrimo-auriculo-dento-digital syndrome.
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| 4. |
Bamforth JS et al. (1992) Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.
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| 5. |
Calabro A et al. (1987) Lacrimo-auriculo-dento-digital (LADD) syndrome.
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| 6. |
Wiedemann HR et al. (1986) LADD syndrome: report of new cases and review of the clinical spectrum.
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| 7. |
Thompson E et al. (1985) Phenotypic variation in LADD syndrome.
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| 8. |
Hollister DW et al. (1973) The lacrimo-auriculo-dento-digital syndrome.
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| 9. |
None (1967) Mesoectodermal dysplasia. A new combination of anomalies.
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| 10. |
Francannet C et al. (1994) LADD syndrome in five members of a three-generation family and prenatal diagnosis.
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| 11. |
Cortes M et al. (2005) Limbal stem cell deficiency associated with LADD syndrome.
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| 12. |
OMIM.ORG article Omim 149730
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| 13. |
Orphanet article Orphanet ID 2363
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