Disease: Arhinia- choanal atresia- and microphthalmia
- A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)
- A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)
- Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam
- Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature
- Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6
- Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report
- Dacryocystocele and Subsequent Dacryocystectomy in a Patient With Bosma Arhinia Microphthalmia Syndrome (BAMS): A Case Report and Review of Literature
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Does DNA Methylation Matter in FSHD?
- Familial arhinia, choanal atresia, and microphthalmia
- FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
- FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
- Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome
- Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
- In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
- Many faces of SMCHD1
- Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans
- SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
- SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
- SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- The Epigenetic Regulator SMCHD1 in Development and Disease