Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse‐Sakati syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neuroendocrinology"
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
Sanjad-Sakati Syndrome: Oral Health Care
Sign Up to like & getrecommendations! Published in 2018 at "Medical Principles and Practice"
DOI: 10.1159/000488352
Abstract: Objectives: The aim of this report is to describe the orofacial manifestations and dental management of a girl with Sanjad-Sakati syndrome. Clinical Presentation and Intervention: The facial features included microcephaly, thin lips, beaked nose, low… read more here.
Keywords: health care; oral health; syndrome oral; sanjad sakati ... See more keywords