research Acne Syndromes and Mosaicism
This review elaborates on the concept of cutaneous mosaicism and its link to acneiform conditions, but it reports no new clinical results.
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5 / 306 resultsresearch Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
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.
research Pigmentary mosaicism: An update
This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
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