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lead syndrome 1
- ... to involve recurrent attacks of kidney damage that lead to ESRD. The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in 500,000 people per year in the ...
- What Are the Symptoms of Preeclampsia, Eclampsia, and HELLP Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)High Blood Pressure in Pregnancy/Symptoms ... High Blood Pressure in Pregnancy ... Eunice Kennedy Shriver National Institute of Child Health and Human Development
- ... Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub ...
- ... working to determine how mutations in this gene lead to the other developmental abnormalities associated with auriculo-condylar syndrome. More About This Health Condition 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate 1- ...
- ... the brain, skin, and other body systems that leads to the characteristic features of Aicardi-Goutières syndrome. Variants in other genes, including the RNU7-1 and LSM11 genes, can also cause Aicardi-Goutières ...
- ... growth and division (proliferation). Uncontrolled cell growth can lead to childhood cancer in people with CMMRD syndrome.It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to ...
- ... gene mutations affect the FRAS/FREM complex or lead to renal agenesis and other CAKUT is unknown. extracellular matrix protein FRAS1 FLJ14927 FLJ22031 Fraser syndrome 1 KIAA1500 Tests of FRAS1 PubMed FRASER EXTRACELLULAR MATRIX ...
- ... Milewicz DM. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet. 2017 Jan 5;100(1):21-30. doi: 10.1016/j.ajhg.2016. ...
- ... and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome. More About This Health Condition spermidine aminopropyltransferase spermine synthase isoform 1 spermine synthase isoform 2 SPMSY SpS SPSY_HUMAN ...
- ... microcephaly) and learning disabilities. Most of these mutations lead to a premature stop signal in the instructions for making the protein. In some cases of Feingold syndrome type 1, the entire MYCN gene is deleted. These genetic ...