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1篇 您的检索式：作者名="Milingou M."

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		题名	作者	年代	出处	被引量
	1	常染色体显性遗传性桥粒芯糖蛋白1基因突变引起的局限性掌跖角化病显示文摘Background: Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles andor palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. Observation: We have identified a patient with a focal non- striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister. Conclusion: Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.	Milingou M. Wood P. Masouyé I. L. Borradori 罗素菊徐波	2006	世界核心医学期刊文摘(皮肤病学分册)2006，0，4：	0

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