• <em>PTEN</em> Hamartoma Tumor Syndrome
• Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?
• Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
• Case report: Rare oral manifestations in Cowden syndrome with <em>PTEN</em> mutation
• De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
• Diagnostic Approach to Macrocephaly in Children
• Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management
• Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
• Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome
• Infantile Macrocephaly: Complicated Familial Benign Enlargement of Subarachnoid Space in Twins of Suspected Nonaccidental Injury
• Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome
• Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism
• Necessity of Intracranial Imaging in Infants and Children With Macrocephaly
• Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases
• Neurodevelopmental Outcomes of Infants with Benign Enlargement of the Subarachnoid Space
• PTEN hamartoma tumor syndrome in childhood and adolescence-a comprehensive review and presentation of the German pediatric guideline
• Quality of life and physician-reported developmental, cognitive, and social problems in children with benign external hydrocephalus-long-term follow-up
• Seizures in Sotos syndrome: Phenotyping in 49 patients
• The PTEN hamartoma tumor syndrome: how oral clinicians may save lives