Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
Four young boys with neonatal onset of encephalopathy, a progressive course, and MECP2 mutations are reported from the University of Alabama, Birmingham, AL Symptoms suggestive of Rett syndrome included failure to thrive, respiratory insufficiency, microcephaly, hypotonia, movement disorder, with my...
Saved in:
Main Author: | J Gordon Millichap (Author) |
---|---|
Format: | Book |
Published: |
Pediatric Neurology Briefs Publishers,
2006-08-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
MECP2 Mutations and Rett Syndrome Phenotypes
by: J Gordon Millichap
Published: (2000) -
Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome
by: Huong Le Thi Thanh, et al.
Published: (2018) -
Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome
by: Hisham Megahed, et al.
Published: (2015) -
Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome
by: Alessio Cortelazzo, et al.
Published: (2017) -
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome
by: Carla Caffarelli, et al.
Published: (2020)