Khalifa, Ola
Combined TSC1 and LMX1B mutations in a single patient. [electronic resource]
- Clinical dysmorphology Apr 2014
- 47-51 p. digital
Publication Type: Case Reports; Journal Article
1473-5717
10.1097/MCD.0000000000000025 doi
Adolescent
Adult
Aged
Child
Child, Preschool
Female
Frameshift Mutation--genetics
Humans
Infant
LIM-Homeodomain Proteins--genetics
Male
Transcription Factors--genetics
Tuberous Sclerosis--genetics
Tuberous Sclerosis Complex 1 Protein
Tumor Suppressor Proteins--genetics