The third family with TAF6‐related phenotype: Alazami‐Yuan syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13711
Abstract: To the Editor: Homozygous variants in TAF6 gene cause an autosomal recessive intellectual disability syndrome with Cornelia de Lange syndrome (CdLS)-like features, namely Alazami-Yuan Syndrome (ALYUS; MIM#617126). We report the third family with additional ocular… read more here.
Keywords: family taf6; family; third family; alazami yuan ... See more keywords
Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i6.1889
Abstract: BACKGROUND This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition. CASE SUMMARY We report an 11-year-old boy with Alazami-Yuan syndrome. The main… read more here.
Keywords: alazami yuan; taf6 gene; report; yuan syndrome ... See more keywords