Disease: Craniosynostosis alopecia brain defect
- Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review
- Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases
- Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria
- Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
- Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature
- Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
- The enigma of lambdoid positional molding