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Janssens, K, Thompson, E, Vanhoenacker, F, Savarirayan, R, Morris, L, Dobbie, A, Van Hul, W.
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?.
Clinical Dysmorphology
12(4)
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245
2003
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Savarirayan, R, Thompson, E, Gécz, J.
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
European Journal of Human Genetics
11(9)
:
639 -642
2003
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Hyland, VJ, Robertson, SP, Flanagan, S, Savarirayan, R, Roscioli, T, Masel, J, Hayes, M, Glass, IA.
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
American Journal of Medical Genetics Part A
120A(2)
:
157 -168
2003
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Aldred, M, Crawford, P, Savarirayan, R, Savulescu, J.
It's only teeth – are there limits to genetic testing?.
Clinical Genetics
63(5)
:
333 -339
2003
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White, SM, Adès, LC, Amor, D, Liebelt, J, Bankier, A, Baker, E, Wilson, M, Savarirayan, R.
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
Clinical Dysmorphology
12(2)
:
109
2003
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