EB患者突变数据库 EB patients mutation database

EB Patient Detail Information
Patient ID 75
Gene1 COL7A1
Mutation1 c.3894+5G>A
Protein1,蛋白质变化1
Effect1,突变的影响1
Gene2 COL7A1
Mutation2 c.4688_4697del
Protein2,蛋白质变化2 p.G1563fs
Effect2,突变的影响2
Inheritance,遗传模式 Recessive
Subtype,类型和亚型 RDEB Intermediate
Gender,性别 Female
Ethnicity,种族民族 Han
Clinical Age,检查检测时的年龄 1
Affected Area,皮损面积,如generalized, pretibial skin loss from knee to foot on both sides on birth.
Blister, 有无水疱及严重程度
Milia,粟丘疹有无,多少,位置
Atrophic Scar,有无萎缩性疤痕
Keratoderma,有无角化过度
Nail,甲是否缺失及发育不良 some dystrophic nails on both feet
Hand,是否有并指
Cocoon Hand,是否有茧套状并指
Feet,脚趾是否并指
Granulation,伤口表面是否有肉芽增生
Anemia,是否有贫血及严重程度
Oral Erosion,口腔溃疡情况
Teeth,龋齿,釉质缺失,脱落等情况
Genitourinary Tract,有无尿道狭窄,疼痛
Respiratory Tract,有无嘶哑的情况
SCC,有无鳞状细胞癌,数量,位置
Hair Loss,少发,脱发
Itch,有无瘙痒及严重程度
Swallow,有无吞咽困难
Others,其它特别的情况 bone extrusion on both feet
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