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Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency. [PDF]

open access: yesPLoS One
Cao L   +10 more
europepmc   +1 more source
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Tbx1

Current topics in developmental biology, 2017
Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.
A. Baldini, F.G. Fulcoli, E. Illingworth
openaire   +4 more sources

Role of TBX1 in human del22q11.2 syndrome

Lancet, The, 2003
Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region.
Takashi Sasaki   +2 more
exaly   +3 more sources

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