Article
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
American journal of medical genetics. Part A - 1 Feb 2012
Halbach Nicky S J, Smeets Eric E J, van den Braak Noortje, van Roozendaal Kees E P, Blok Rien M J, Schrander-Stumpel Constance T R M, Frijns Jean-Pierre, Maaskant Marian A, Curfs Leopold M G
Abstract excerpt
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed and specific disorder profiles...
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