CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
about
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literatureGenetics of lymphatic anomaliesSpectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.Clinical significance of CCBE1 expression in lung cancer.CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.Angioid streaks in aagenaes syndrome.Biology of Vascular Endothelial Growth Factor C in the Morphogenesis of Lymphatic Vessels.Mechanisms of Connexin-Related Lymphedema
P2860
Q21146703-3A26C063-8D57-43BC-83F4-0A74A8AC0BDDQ28308201-434FADAA-CCF3-49CD-9D97-66188C982D9FQ35469250-9D11698F-D82F-4C80-BEF9-93B536C183ABQ37173593-5B04A47B-8605-4E5B-93ED-926701DCA6DDQ47328796-4947A617-642D-40CB-9B02-8A009827AAA1Q51202192-5DCF1DD6-575E-4155-AD33-109EF0657997Q54760202-9F3818F9-7D46-4CD1-B758-DADC389AB2DCQ54985404-E26511A5-C83D-46F4-B2A0-FE0081110DBCQ57820987-dd4e85a4-4603-7c23-a666-30a89aad9042
P2860
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@ast
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@en
type
label
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@ast
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@en
prefLabel
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@ast
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@en
P2093
P2860
P1433
P1476
CCBE1 mutation in two siblings ...... and the other, fetal hydrops.
@en
P2093
A S Knisely
Kristin Eiklid
Laura K Conlin
Laura N Bull
Luis Gomez
Michael T Mennuti
Nancy B Spinner
Randolph P Matthews
Sohela Shah
Øystein Aagenaes
P2860
P304
P356
10.1371/JOURNAL.PONE.0075770
P407
P577
2013-09-26T00:00:00Z