Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse‐Sakati syndrome.
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DOI: 10.1111/jne.13185
Abstract: Woodhouse‐Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radiological features of small pituitary gland, progressive… read more here.
Keywords: dcaf17 gene; whole exome; analysis; sakati syndrome ... See more keywords