-
deficiency (DeVivo syndrome)
Haploinsufficiency of A20
Haploinsufficiency of PRR12
Holoprosencephaly caused by
haploinsufficiency in the
Sonic Hedgehog gene...
-
Haploinsufficiency of A20 is a rare
disease caused by
mutations in the gene TNFAIP3. This gene is also
known as A20.
These are
variable even
within families...
- with
short stature in
humans if
mutated or
present in only one copy (
haploinsufficiency). SHOX was
first found during a
search for the
cause of
short stature...
- with
active SLE.
Germline haploinsufficiency of CTLA-4
leads to CTLA-4
deficiency or CHAI
disease (CTLA4
haploinsufficiency with
autoimmune infiltration)...
- for health. This is
called haploinsufficiency. For instance, a
single copy of the Kmt5b gene
leads to
haploinsufficiency and
results in a
skeletal muscle...
-
neurodevelopmental disorder, is a rare
novel genetic disorder arising from
haploinsufficiency of the PURA gene that
codes for the
protein pur-alpha. Its discovery...
- GATA2
deficiency Other names GATA2
haploinsufficiency, GATA2
deficiency syndrome...
- GTF2I, GTF2IRD1, and LIMK1 are
among the
genes typically deleted.
Haploinsufficiency for the ELN gene,
which codes for the
extracellular matrix protein...
- Robin.
While Nager syndrome is
thought to be most
often caused by
haploinsufficiency of the
spliceosomal factor SF3B4, in over one
third of
patients tested...
-
Pouncey J, Stevens, C., Mackay-Loder L,
Terespolsky D, and 31 others.
Haploinsufficiency of SOX5 at 12p12.1 is ****ociated with
developmental delays with prominent...
