Article
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Clinical genetics - 1 May 2015
Basehore M J, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird L M, Friez M J, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis P C, Raymond G, Wang T, Schwartz C E, King M-C, Stevenson R E
Abstract excerpt
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inactivation in female carriers. With the advent of next generation sequencing, mutations have been identified that result in less severe phenotypes lacking one or more of...
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