Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
about
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signalingSomatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsRecurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.A rare non-Robertsonian translocation involving chromosomes 15 and 21.Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.
P2860
Q24311638-3A8F4BE3-F349-4905-BC96-2FDE4C49F180Q26773011-02C719FA-EBFE-4A08-9DF3-636298255068Q34329452-5AE47918-AC0A-4BC1-97B6-499A100CA6DCQ36284074-123B75CC-2D0F-4F93-858E-1FEEBCC57A57Q44031565-AC977D2D-42AC-4D3C-A28F-83E52EF012FCQ48318063-C559EE0C-355A-4A8B-820F-AEA9E3DF9704Q50715864-C500ECA0-23A7-4653-88D8-B0BB02E5288EQ51831615-A747E17E-F517-489A-8251-592CC1299ADAQ54551808-24650009-1DA2-4486-856B-ADC606A94754
P2860
Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Drayer's syndrome of mental re ...... f chromosome 15(q26.2-->qter).
@en
type
label
Drayer's syndrome of mental re ...... f chromosome 15(q26.2-->qter).
@en
prefLabel
Drayer's syndrome of mental re ...... f chromosome 15(q26.2-->qter).
@en
P2093
P1433
P1476
Drayer's syndrome of mental re ...... f chromosome 15(q26.2-->qter).
@en
P2093
B Sikkema-Raddatz
C M A van Ravenswaaij
H H Lemmink
J B G M Verheij
T Dijkhuizen
P2860
P304
P356
10.1111/J.1399-0004.2008.01064.X
P577
2008-07-21T00:00:00Z