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Bellus GA,
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Achondroplasia is defined by recurrent G380R mutations in FGFR3.
American Journal of Human Genetics
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Hall JG
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book
Hall JG and
Lopez-Rangel E
(1996)
"Twins and twinning".
In: Rimoin DL,
Connor JM and
Pyeritz RE (eds.)
Emery and Rimoin's Principles and Practice of Medical Genetics,
3rd edn,
vol. 1,
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Happle R
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Kalousek DK
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Lázaro C,
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| Further Reading |
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American Journal of Medical Genetics
(1999)
Papers from the International symposium mosaicism in human skin.
American Journal of Medical Genetics
85: 328364.
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Bernards A and
Gusella JF
(1994)
The importance of genetic mosaicism in human disease.
New England Journal of Medicine
331: 14471449.
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Flannery DB
(1990)
Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism.
American Journal of Medical Genetics
35: 1821.
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Hall JG
(1988)
Review and hypotheses: somatic mosaicism: observations related to clinical genetics.
American Journal of Human Genetics
43: 355363.
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|
Hurst LD and
Ellegren H
(1998)
Sex biases in the mutation rate.
Trends in Genetics
14: 446452.
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Jonkman MF
(1999)
Revertant mosaicism in human genetic disorders.
American Journal of Medical Genetics
85: 361364.
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Qian F and
Germino GG
(1997)
Mistakes happen: somatic mutation and disease.
American Journal of Human Genetics
61: 10001005.
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Tischfield JA
(1997)
Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination.
American Journal of Human Genetics
61: 995999.
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| Web Links |
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ePath
Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3); Locus ID: 2261. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261
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ePath
Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (NF1); Locus ID: 4763. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4763
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ePath
Tuberous sclerosis 1 (TSC1); Locus ID: 7248. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7248
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ePath
Tuberous sclerosis 2 (TSC2); Locus ID: 7249. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7249
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ePath
Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3); MIM number: 134934. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?134934
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ePath
Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (NF1); MIM number: 162200. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?162200
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ePath
Tuberous sclerosis 1 (TSC1); MIM number: 605284. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?605284
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ePath
Tuberous sclerosis 2 (TSC2); MIM number: 191092. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?191092
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