The third family with TAF6‐related phenotype: Alazami‐Yuan syndrome
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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