Finding new etiologies of mental retardation and hypotonia: X marks the spot

Developmental Medicine and Child Neurology
R Curtis RogersCharles E Schwartz

Abstract

Mental retardation (MR) and hypotonia occur together frequently and have a heterogeneous etiology. Molecular and clinical studies have led to the recent discovery of genes on the X chromosome that may be associated with syndromal forms of X-linked MR (XLMR). These disorders manifest additional neurological and somatic features that are helpful in establishing a specific diagnosis and etiology. This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes.

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Citations

Oct 24, 2012·Proceedings of the National Academy of Sciences of the United States of America·Haiying ZhouThomas G Boyer
Nov 26, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robin Dawn ClarkRoger E Stevenson
Jun 11, 2011·Journal of Inherited Metabolic Disease·Vassili ValayannopoulosPascale de Lonlay
Jan 24, 2017·Ophthalmic Genetics·Natario L CouserRoger E Stevenson

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