|
| Status |
Public on Jan 22, 2017 |
| Title |
A new syndrome of overgrowth, macrocephaly, hypoglycemia, enlarged ventricles, mild, and moderate intellectual disability and recurrent inflammatory disease is due to mutations in RNF125 |
| Organism |
Homo sapiens |
| Experiment type |
Methylation profiling by array
|
| Summary |
Methylation analysis of individuals with RNF125 mutations
|
| |
|
| Overall design |
Methylation analysis utilizing the Illumina Infinium HumanMethylation450 BeadChip arrays
|
| |
|
| Contributor(s) |
Lapunzina P, Monk D |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jan 23, 2014 |
| Last update date |
Mar 22, 2019 |
| Contact name |
Manel Esteller |
| Organization name |
IDIBELL
|
| Department |
PEBC
|
| Lab |
Cancer Epigenetics
|
| Street address |
Hospital Duran i Reynals Av. Gran Via s/n km, 2.7
|
| City |
L'Hospitalet de Llobregat |
| State/province |
Barcelona |
| ZIP/Postal code |
08908 |
| Country |
Spain |
| |
|
| Platforms (1) |
| GPL13534 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482) |
|
| Samples (4)
|
|
| Relations |
| BioProject |
PRJNA236218 |
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