Disease: Ablepharon macrostomia syndrome
- A case of ablepharon macrostomia syndrome requiring multidisciplinary care
- A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting
- A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence
- Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution
- Ablepharon macrostomia syndrome
- Ablepharon macrostomia syndrome
- Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q
- Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
- Ablepharon macrostomia syndrome: Absent prepuce in the first case report in West Africa
- Ablepharon Macrostomia Syndrome: Rib Cartilage and Fat Grafting for Lower Lid Reconstruction
- Ablepharon-macrostomia syndrome
- Ablepharon-macrostomia syndrome in a 46-year-old woman
- Ablepharon-Macrostomia syndrome--extension of the phenotype
- Ablepharon-macrostomia syndrome: first report of familial occurrence
- An optimized base editor with efficient C-to-T base editing in zebrafish
- Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
- Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview
- Barber-say syndrome: a confirmed case of <em>TWIST2</em> gene mutation
- Barber-Say Syndrome: report of a new case
- Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
- Clinical variant of ablepharon macrostomia syndrome
- Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome
- Correlation research between changes of breathing during sleep and AMS
- Cryptophthalmos: associated syndromes and genetic disorders
- Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome
- Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations
- Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1
- Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities
- Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome
- Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?
- Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans
- Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome
- Male fertility and skin diseases
- Modified Reverse Hatchet Flap for Ablepharon-Macrostomia Syndrome
- Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2
- Programmable base editing in zebrafish using a modified CRISPR-Cas9 system
- Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
- Revisiting TOP2B-related phenotypes: Three new cases and literature review
- The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
- Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report