Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene
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DOI: 10.1111/cge.13232
Abstract: Circumferential skin creases Kunze type (CSC‐KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tire Baby Syndrome (MTBS). CSC‐KT patients also exhibit… read more here.
Keywords: csc; mutation terminal; novel heterozygous; tubb gene ... See more keywords