Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

Item
http://www.wikidata.org/entity/Q28242364
The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA librariesCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.Genetic analysis of patients with the Saethre-Chotzen phenotype.
P2860

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

Item
http://www.wikidata.org/entity/Q28242364
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Localization of the genetic lo ...... anced translocations at 7p21.2
@ast
Localization of the genetic lo ...... anced translocations at 7p21.2
@en
Localization of the genetic lo ...... anced translocations at 7p21.2
@nl
type
label
Localization of the genetic lo ...... anced translocations at 7p21.2
@ast
Localization of the genetic lo ...... anced translocations at 7p21.2
@en
Localization of the genetic lo ...... anced translocations at 7p21.2
@nl
prefLabel
Localization of the genetic lo ...... anced translocations at 7p21.2
@ast
Localization of the genetic lo ...... anced translocations at 7p21.2
@en
Localization of the genetic lo ...... anced translocations at 7p21.2
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Localization of the genetic lo ...... nced translocations at 7p21.2.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698