Disease: Pitt-Hopkins syndrome (18q21 deletion syndrome)
- 18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction
- Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
- Genetic analysis of a child with Pitt-Hopkins syndrome due to a 18q21.2q21.32 deletion
- Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion
- Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene
- Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33)
- Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report
- Mosaic microdeletion 18q21 as a cause of mental retardation
- Pitt-Hopkins Syndrome
- Pitt-Hopkins Syndrome
- Pitt-Hopkins Syndrome
- Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis
- Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism
- TCF4 deletions in Pitt-Hopkins Syndrome
- The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria
- Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome