Identification of Somatic and Germline Mosaicism for a Keratin 5 Mutation in Epidermolysis Bullosa Simplex in a Family Initially Regarded as a Sporadic Case
June 2004
in “
Clinical Genetics
”
Studysummary This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
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