Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2012-02, Vol.158A (2), p.461-464
Main Authors: Faletra, Flavio, D'Adamo, Adamo Pio, Rocca, Maria Santa, Carrozzi, Marco, Perrone, Maria Dolores, Pecile, Vanna, Gasparini, Paolo
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Breakpoints
Chromosome Duplication - genetics
Chromosomes, Human, X - genetics
Hand Deformities, Congenital - diagnosis
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Karyotyping
Medical genetics
Medical sciences
Muscle Hypotonia - diagnosis
Polymorphism, Single Nucleotide
Protein Tyrosine Phosphatases - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.34398