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See Latest ArticlesApparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia
American Journal of Medical Genetics, 09/18/09
Salpietro CD et al. – The authors report on a girl with similar manifestations who corroborates the existence of this rare disorder. CM, microcephaly, microtia, and/or hearing loss are the minimal diagnostic criteria. All the known patients were sporadic, but parental consanguinity in the first case argues for a possible autosomal–recessive inheritance.
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