Total: 3 |
|
PMID (PMCID) | ||
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25388407 |
MIXED_SAMPLE | Infant, Newborn |
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. | ||
Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F. Eur J Pediatr. 2015;174(5):661-8. |
||
The patients had variable clinical presentations including hepatosplenomegaly, pancytopenia, liver failure, proteinuria, hydrops fetalis, cardiomyopathy, and skin manifestations (e.g., dryness, cutis laxa, ichthyosis, telangiectasias, and hemangiomas). | ||
22401877 |
FEMALE | Adult |
Placental expression of anti-angiogenic proteins in mirror syndrome: a case report. | ||
Graham N, Garrod A, Bullen P, Heazell AE. Placenta. 2012;33(6):528-31. |
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Mirror syndrome is a rare disorder in which fetal hydrops is associated with maternal oedema, proteinuria and hypertension. | ||
17666658 |
FEMALE | Adult |
Mirror syndrome: a novel approach to therapy with fetal peritoneal-amniotic shunt. | ||
Livingston JC, Malik KM, Crombleholme TM, Lim FY, Sibai BM. Obstet Gynecol. 2007;110(2 Pt 2):540-3. |
||
In mirror syndrome, there is maternal hypertension, edema, and often proteinuria in association with fetal hydrops. |