XLMR genes: Update 1990

We have identified 39 X‐linked conditions in which mental retardation seems to be the primary characteristic, although pathogenesis is unknown. These conditions can be subdivided into syndromal and non‐syndromal, depending on the existence of a recognizable pattern of minor anomalies and/or malforma...

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Veröffentlicht in:American journal of medical genetics 1991-02, Vol.38 (2-3), p.186-189
Hauptverfasser: Neri, Giovanni, Gurrieri, Fiorella, Gal, Andreas, Lubs, Herbert A.
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Sprache:eng
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Zusammenfassung:We have identified 39 X‐linked conditions in which mental retardation seems to be the primary characteristic, although pathogenesis is unknown. These conditions can be subdivided into syndromal and non‐syndromal, depending on the existence of a recognizable pattern of minor anomalies and/or malformations, or lack thereof. Seventeen genes have been regionally mapped onto the X chromosome. However, in 14 instances the data were derived from a single family and most lod scores were less than 3.0.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320380204