학술논문
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Document Type
Journal Article
Author
Maduro, Valerie; Pusey, Barbara N.; Cherukuri, Praveen F.; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David R.; Bhatt, Samarth S.; Eydoux, Patrice; Links, Amanda E.; Lehman, Anna; Malicdan, May C.; Mason, Christopher E.; Morimoto, Marie; Mullikin, James C.; Sear, Andrew; Van Karnebeek, Clara; Stankiewicz, Pawel; Gahl, William A.
Source
Subject
*GENE expression
*MOLECULAR genetics
*CHROMOSOMAL translocation
*CHROMOSOMES
*CHROMOSOME abnormalities
*COMPARATIVE studies
*FACIAL manifestations of general diseases
*GENES
*GENETIC polymorphisms
*HYPERVENTILATION
*RESEARCH methodology
*MEDICAL cooperation
*PEOPLE with intellectual disabilities
*GENETIC mutation
*POLYMERASE chain reaction
*PROTEINS
*RESEARCH
*RESEARCH funding
*RNA
*TRANSCRIPTION factors
*EVALUATION research
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Language
ISSN
1750-1172
Abstract