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DIEKER, Hans Jochen

1941–1973

  • Chapter
The Person Behind the Syndrome

Abstract

MILLER-DIEKER syndrome is a lethal autosomal recessive disorder in which mental retardation, failure to thrive, a characteristic facies and malformation of internal organs are associated with lissencephaly (i.e. a smooth brain which lacks the normal convolutions).

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References

  • Dieker H, Edwards RH, Zu Rhein G, Chou SM, Hartman HA, Opitz JM (1969) The lissencephaly syndrome. The Clinical Delineation of Birth Defects II. Malformation Syndromes. National Foundation-March of Dimes, New York, pp. 53–64

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  • Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717–721

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© 1997 Springer-Verlag London Limited

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Beighton, P., Beighton, G. (1997). DIEKER, Hans Jochen. In: The Person Behind the Syndrome. Springer, London. https://doi.org/10.1007/978-1-4471-0925-9_27

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  • DOI: https://doi.org/10.1007/978-1-4471-0925-9_27

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-1236-5

  • Online ISBN: 978-1-4471-0925-9

  • eBook Packages: Springer Book Archive

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