Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability - Ghaffar, Amama; Rasheed, Faiza; Rashid, Muhammad; van Bokhoven, Hans; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima (European journal of human genetics : EJHG, 2022)
Keywords: Autosomal recessive inheritance; Brief Communication; Doublecortin protein; Gene deletion; Genes, Recessive; Homozygote; Humans; Intellectual disabilities; Intellectual Disability - genetics; Muscle Hypotonia - genetics; Neurogenesis; Pakistan; Protein structure; Secondary structure; Sequence Deletion; SOXC Transcription Factors - genetics; Telencephalon; Transcription; Pakistan