First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
about
A Mouse Model for Imprinting of the Human Retinoblastoma GeneHuman PPP1R26P1 functions as cis-repressive element in mouse Rb1.Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defectsLarge deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.Review of the Genetic Basis of Jaw Malformations.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
P2860
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
description
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name
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@ast
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@en
type
label
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@ast
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@en
prefLabel
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@ast
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@en
P2093
P2860
P356
P1476
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
@en
P2093
D R Lohmann
D Wieczorek
H-J Lüdecke
P2860
P356
10.1159/000335545
P577
2012-01-26T00:00:00Z