Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
about
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesA subset of signal transduction pathways is required for hippocampal growth cone collapse induced by ephrin-A5.Genetic aspects of human congenital diaphragmatic hernia.Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Genetic causes of congenital diaphragmatic herniaContiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Molecular genetics of congenital diaphragmatic defects.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.Additional EFNB1 mutations in craniofrontonasal syndrome.
P2860
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P2860
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
description
article
@en
im April 2006 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2006
@uk
ലേഖനം
@ml
name
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@en
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@nl
type
label
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@en
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@nl
prefLabel
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@en
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@nl
P2093
P2860
P356
P1476
Expanding the phenotype of cra ...... ongenital diaphragmatic hernia
@en
P2093
Jackie A Cook
John B Mulliken
Oliver W J Quarrell
Pradeep C Vasudevan
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201633
P577
2006-04-26T00:00:00Z