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Last Updated: 10/31/2025
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Found 30 publications
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome.
Journal: American journal of medical genetics. Part A
Published: April 29, 2025
Bilateral Dacryocystoceles in Congenital Arhinia.
Journal: Ophthalmic plastic and reconstructive surgery
Published: May 22, 2024
Dacryocystocele and Subsequent Dacryocystectomy in a Patient With Bosma Arhinia Microphthalmia Syndrome (BAMS): A Case Report and Review of Literature.
Journal: Journal of pediatric ophthalmology and strabismus
Published: March 26, 2024
Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.
Journal: Endocrinologia, diabetes y nutricion
Published: November 02, 2023
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
Journal: BMC medical genomics
Published: October 03, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Journal: Nucleic acids research
Published: March 24, 2023
Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam.
Journal: Cureus
Published: February 20, 2023
Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.
Journal: American journal of medical genetics. Part A
Published: November 04, 2022
SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.
Journal: The Biochemical journal
Published: April 21, 2021
A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)
Journal: Laryngo- rhino- otologie
Published: March 30, 2021
Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament.
Journal: Case reports in pediatrics
Published: March 17, 2021
Last Updated: 10/31/2025