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Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness.
American Journal of Medical Genetics Part A
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Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?.
American Journal of Medical Genetics Part A
143A(18)
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2085 -2088
2007
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Arnold, A, Payne, S, Fisher, S, Fricker, D, Soloway, J, White, SM, Novelli, M, MacDonald, K, Mackay, J, Groves, R, et al.
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.
Familial Cancer
6(3)
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Confined blood chimerism in monochorionic dizygous (MCDZ) twins.
Prenatal Diagnosis
27(4)
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2007
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Kannu, P, Savarirayan, R, Ozoemena, L, White, SM, McGrath, JA.
Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome.
American Journal of Medical Genetics Part A
140A(8)
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887 -891
2006
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