Carmi, Rivka

(redirected from Carmi syndrome)

Carmi,

Rivka, Israeli geneticist, 1948–.
Carmi syndrome - autosomal recessive disorder, featuring junctional epidermolysis bullosa with pyloric atresia.
References in periodicals archive ?
On the eighth day of life, the pathology report using immunofluorescence mapping showed an absence of [alpha]6-[beta]4-integrin consistent with JEB-PA, Carmi syndrome. Incomplete staining on laminin-332 (formerly laminin-5) was also noted (Figure 3).
After gleaning the mother's understanding of her infant's condition, the medical team clarified the grave prognosis of Carmi syndrome compounded by renal failure.
We hope this discussion helps clinicians better understand Carmi syndrome and its complications, both medical and ethical.