Mademont-Soler, Irene

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). [electronic resource] - American journal of medical genetics. Part A Sep 2010 - 2308-12 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.33550 doi


Abnormalities, Multiple
Adolescent
Chromosomes, Human, Pair 13--genetics
Chromosomes, Human, Pair 6
Comparative Genomic Hybridization--methods
DNA-Binding Proteins
Dandy-Walker Syndrome--genetics
Female
Humans
Nuclear Proteins--genetics
Phenotype
Sequence Deletion
Transcription Factors--genetics
Translocation, Genetic