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Article

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.

American journal of medical genetics - 1 Sept 1990

Anvret M, Wahlström J, Skogsberg P, Hagberg B

Abstract excerpt

We report on the first family in which Rett syndrome (RTS) appeared in two consecutive generations. The index case is a 12-year-old girl (classical RTS); her maternal aunt, age 44 years, has mild RTS. Clinically, the family illustrates the wide phenotypic variability between cases, particularly i...

Topics

Adult
Child
Female
Haplotypes
Humans
Male
Mutation
Pedigree
Rett Syndrome
X Chromosome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2240040
DOI: 10.1002/ajmg.1320370109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2240040-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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