Associated Papers
Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.
Kokitsu-Nakata NM et al.
American Journal of Medical Genetics. Part A, 2024
Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.
Atencia Goñi J et al.
Endocrinologia, Diabetes Y Nutricion, 2024
Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.
Bargiela M et al.
The Journal of Craniofacial Surgery, 2023
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