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