Results 1 -
2
of
2
for
Ochoa 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 ...
