Article
Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome.
European journal of pediatrics - 1 Jan 2003
Haverkamp Fritz, Keuker Tanja, Woelfle Joachim, Kaiser Gundi, Zerres Klaus, Rietz Christian, Ruenger Michaela
Abstract excerpt
In Turner syndrome (TS), an X-chromosomal anomaly characterised by total or partial loss of the second X-chromosome, muscle hypotonia, and lower proficiency in fine and gross motor skills have been described. It is assumed that the neuromotor phenotype in TS is linked with X-chromosomal factors (individual mosaicism) and with the oestrogen deficiency due to streak gonads. From studies in normal populations, a...
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