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Alpha-Thalassemia X-Linked Mental Retardation Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Alpha-thalassemia X-linked mental retardation (ATRX) syndrome, one form of X-linked mental retardation, is characterized by severe mental retardation, typical dysmorphic facies, genital abnormalities, and an unusually mild form of hemoglobin H disease (Gibbons et al. 1995a).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Alpha-Thalassemia X-Linked Mental Retardation Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_9-3

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_9-3

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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Chapter history

  1. Latest

    Alpha-Thalassemia X-Linked Mental Retardation Syndrome
    Published:
    07 November 2016

    DOI: https://doi.org/10.1007/978-1-4614-6430-3_9-3

  2. Original

    Alpha-Thalassemia X-Linked Mental Retardation Syndrome
    Published:
    19 December 2015

    DOI: https://doi.org/10.1007/978-1-4614-6430-3_9-2

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