Ekure, Ekanem N
Tuberous sclerosis in a patient from Nigeria. [electronic resource]
- American journal of medical genetics. Part A 08 2019
- 1423-1425 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
1552-4833
10.1002/ajmg.a.61194 doi
Angiofibroma--diagnosis
Child, Preschool
Gene Expression
Humans
Male
Mutation
Myocardium--metabolism
Nigeria
Rhabdomyoma--diagnosis
Skin--metabolism
Tuberous Sclerosis--diagnosis
Tuberous Sclerosis Complex 1 Protein--genetics
Tuberous Sclerosis Complex 2 Protein--genetics
Exome Sequencing