Facies
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Subject Areas on Research
- CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
- Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
- Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
- Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
- Ectodermal dysplasia: otolaryngologic manifestations and management.
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
- HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
- Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
- The cardiofaciocutaneous syndrome.