MECP2 Mutations and Rett Syndrome Phenotypes

J Gordon Millichap

doi:10.15844/pedneurbriefs-14-5-10

MECP2 Mutations and Rett Syndrome Phenotypes

Pediatric Neurology Briefs

Volume 14 (2000): Issue 5

By: J Gordon Millichap

Open Access

|May 2000

Abstract

Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.

References

Amir RE Van den Veyver IB Schultz R Malicki DM Tran CQ Dahle EJ Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes Ann Neurol 2000 May 47 5 670 9 10.1002/1531-8249(200005)47:5<;670::AID-ANA20>3.3.CO;2-6 10805343
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Blue ME Naidu S Johnston MV Development of amino acid receptors in frontal cortex from girls with Rett syndrome Ann Neurol 1999 Apr 45 4 541 5 10.1002/1531-8249(199904)45:4<;541::AID-ANA21>3.0.CO;2-2 10211484
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-14-5-10 | Journal eISSN: 2166-6482

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Language: English

Page range: 39 - 39

Published on: May 1, 2000

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Rett Syndrome,

Milder Phenotypes,

X Chromosome Inactivation

© 2000 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 14 (2000): Issue 5