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Article

A silent mutation in exon 14 of theAPC gene is associated with exon skipping in a FAP family

1 Dec 2001

Abstract excerpt

EDITOR-Rett syndrome (RTT) (MIM 312750) is an X linked dominant neurodevelopmental disorder that occurs almost exclusively in females. AVected girls are considered to have a normal perinatal period followed by a period of regression, loss of acquired purposeful manual and speech skills, hand wringing, gait disturbance, and growth retardation. 1 2 A gene for RTT has been identified in the Xq28 region which encodes...

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PMID: 11768390
DOI: 10.1136/jmg.38.12.863

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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