A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
about
Somatic genome variations in health and diseaseRing chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.Telomere shortening and telomere position effect in mild ring 17 syndrome.Heterogeneity and hypothesis testing in neuropsychiatric illness.Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.
P2860
Q34479594-05330DE0-0468-4E67-8997-7F7E00216547Q37822835-839B2DA2-A8A6-43FF-A2D6-3C65D2E7A7E4Q41822254-90581827-E0BB-4CE4-B673-7D48AAEF4E0DQ42585906-74B53CB3-B9AD-40FA-AFDF-4C6AFB604C0AQ42635252-C1101594-86A9-483D-BA5F-B80EBBCC6E5BQ52118908-7C1ED334-C8D2-40A8-BC35-1D9091A2D3DFQ53544230-63258941-21D3-4641-AEE2-2CEA5EC86B71
P2860
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@en
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@nl
type
label
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@en
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@nl
prefLabel
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@en
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@nl
P2093
P356
P1476
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
@en
P2093
Borivoj Petrak
Drahuse Novotna
Eduard Kocarek
Kamila Novotna
Marketa Havlovicova
Michal Hrdlicka
Sarka Bendova
Zdenek Sedlacek
P356
10.1002/AJMG.A.31569
P407
P577
2007-01-01T00:00:00Z