MECP2 Mutations and Rett Syndrome Phenotypes

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.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2000-05-01
Series:Pediatric Neurology Briefs
Subjects:
Online Access:https://www.pediatricneurologybriefs.com/articles/1936
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spelling doaj-819e9b4798ec4b51b409a8baf51a64692020-11-25T01:01:02ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822000-05-01145393910.15844/pedneurbriefs-14-5-101923MECP2 Mutations and Rett Syndrome PhenotypesJ Gordon Millichap0Northwestern University Feinberg School of MedicineSeventy-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.https://www.pediatricneurologybriefs.com/articles/1936rett syndromemilder phenotypesx chromosome inactivation
collection DOAJ
language English
format Article
sources DOAJ
author J Gordon Millichap
spellingShingle J Gordon Millichap
MECP2 Mutations and Rett Syndrome Phenotypes
Pediatric Neurology Briefs
rett syndrome
milder phenotypes
x chromosome inactivation
author_facet J Gordon Millichap
author_sort J Gordon Millichap
title MECP2 Mutations and Rett Syndrome Phenotypes
title_short MECP2 Mutations and Rett Syndrome Phenotypes
title_full MECP2 Mutations and Rett Syndrome Phenotypes
title_fullStr MECP2 Mutations and Rett Syndrome Phenotypes
title_full_unstemmed MECP2 Mutations and Rett Syndrome Phenotypes
title_sort mecp2 mutations and rett syndrome phenotypes
publisher Pediatric Neurology Briefs Publishers
series Pediatric Neurology Briefs
issn 1043-3155
2166-6482
publishDate 2000-05-01
description 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.
topic rett syndrome
milder phenotypes
x chromosome inactivation
url https://www.pediatricneurologybriefs.com/articles/1936
work_keys_str_mv AT jgordonmillichap mecp2mutationsandrettsyndromephenotypes
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