Amish, Mennonite, and Hutterite
Genetic Disorder Database

Epidermolysis Bullosa Letalis

Disorder
OMIM #: #226700  (Click to access OMIM database)
Disorder: Epidermolysis Bullosa Letalis 
Also known as: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE, HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPILIGRIN, INCLUDED 
Clinical
Phenotype: Die in infancy, generalized blistering at birth, periorificial erosions, hoarse cry, cough, respiratory distress, sepsis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2015-04-23 

References
Cross HE, Wells RS, and Esterly JR. (1968) Inheritance in epidermolysis bullosa letalis. J Med Genet 5(3): 189-196.
PubMed ID: 5751205 

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