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Ochoa syndrome
Did you mean rocha syndrome?
- ... gene mutations have been identified in people with Ochoa syndrome (also called urofacial syndrome), a disorder that causes ... between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain ...
- ... on PubMed Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic ...
- The TBP gene provides instructions for making a protein called the TATA box binding protein. This protein is active in cells and tissues throughout the body, ...