Figure 1
Diagnostic strategy for RSTS. A microdeletion at #16p13.3 or a mutation in CBP/p300 can be found in about 55%, leaving the diagnosis in 45% of the patients to rest on clinical features only.
Figure 1 | European Journal of Human Genetics
Diagnostic strategy for RSTS. A microdeletion at #16p13.3 or a mutation in CBP/p300 can be found in about 55%, leaving the diagnosis in 45% of the patients to rest on clinical features only.
