about
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletionMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthWilliams syndrome and chromosome 18Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature reviewThe discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
P2860
Q24675247-53A3E770-9121-4F18-92B9-E096F664D76AQ24675777-E6378A9C-A75B-49C6-9978-16E5A8287DCEQ33594491-DFBA3453-B836-419B-AD19-0001A99F4EA0Q33678087-5D8BB75A-2E7A-4A2A-B5E7-E5AEB44C99B1Q34416602-0D179017-6A6D-4B54-BC20-E6913D800FA2Q35809316-CB79BE83-07C4-4CE7-A8D5-08C4E5DBD5DAQ36943643-679258BE-40E7-45EE-AFFF-7FAC9049A9E6
P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Unbalanced 13;18 translocation and Williams syndrome.
@ast
Unbalanced 13;18 translocation and Williams syndrome.
@en
type
label
Unbalanced 13;18 translocation and Williams syndrome.
@ast
Unbalanced 13;18 translocation and Williams syndrome.
@en
prefLabel
Unbalanced 13;18 translocation and Williams syndrome.
@ast
Unbalanced 13;18 translocation and Williams syndrome.
@en
P2093
P2860
P356
P1476
Unbalanced 13;18 translocation and Williams syndrome.
@en
P2093
P2860
P356
10.1136/JMG.29.1.63
P407
P577
1992-01-01T00:00:00Z