TY - JOUR
T1 - Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia
T2 - Use as a broad prognostic indicator
AU - Frew, John W.
AU - Dopping-Hepenstal, Patricia J.H.
AU - McGrath, John A.
PY - 2010/8
Y1 - 2010/8
N2 - Epidermolysis bullosa with pyloric atresia is a form of junctional epidermolysis bullosa associated with gastrointestinal abnormalities, which may include pyloric atresia. Genotype phenotype correlation is poorly understood and prognosis is difficult, if not impossible, to predict. Immunoflourescence mapping is an ideal candidate for developing a broad prognostic indicator for epidermolysis bullosa with pyloric atresia without the need for genetic mutation analysis. However, the tool developed in this paper does have limitations due to the small number of cases available and the effects of deleterious mutations in highly conserved cysteine residues on the predicted length of survival.
AB - Epidermolysis bullosa with pyloric atresia is a form of junctional epidermolysis bullosa associated with gastrointestinal abnormalities, which may include pyloric atresia. Genotype phenotype correlation is poorly understood and prognosis is difficult, if not impossible, to predict. Immunoflourescence mapping is an ideal candidate for developing a broad prognostic indicator for epidermolysis bullosa with pyloric atresia without the need for genetic mutation analysis. However, the tool developed in this paper does have limitations due to the small number of cases available and the effects of deleterious mutations in highly conserved cysteine residues on the predicted length of survival.
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U2 - 10.1111/j.1440-0960.2010.00666.x
DO - 10.1111/j.1440-0960.2010.00666.x
M3 - Article
C2 - 20695865
AN - SCOPUS:77955293218
SN - 0004-8380
VL - 51
SP - 212
EP - 214
JO - Australasian Journal of Dermatology
JF - Australasian Journal of Dermatology
IS - 3
ER -