Definition of Haploinsufficiency. Meaning of Haploinsufficiency. Synonyms of Haploinsufficiency

- 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 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...
- 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...
- gene expression and can result in SON haploinsufficiency. ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and...
- GATA2 deficiency Other names GATA2 haploinsufficiency, GATA2 deficiency syndrome...
- 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...
- neurodevelopmental disorder, is a rare novel genetic disorder arising from haploinsufficiency of the PURA gene that codes for the protein pur-alpha. Its discovery...
- ribosome ****embly. Mutations in TCOF1 lead to haploinsufficiency of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one...