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It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [ 4 ] References
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Children 2 Henry Hubert Turner (August 28, 1892 – August 4, 1970) was an American endocrinologist , noted for his published description of Turner syndrome in 1938 at the annual meeting of the Association for the Study of Internal Secretions.
n/a Ensembl ENSG00000185960 n/a UniProt O15266 n/a RefSeq (mRNA) n/a n/a RefSeq (protein) NP_000442 NP_006874 n/a Location (UCSC) n/a n/a PubMed search n/a Wikidata View/Edit Human The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present ...
While Turner syndrome has similarities with renal anomalies and developmental delay, Turner syndrome is only found in females and often expresses differently. In Turner syndrome, there is a lower incidence of developmental delays, left-sided heart defects are constant and the occurrence of renal abnormalities is much lower. [36] Other RASopathies
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Wilson–Mikity syndrome; Wilson–Turner syndrome; Winchester syndrome; Winter-over syndrome; Wiskott–Aldrich syndrome; Wissler's syndrome; Withdrawal syndrome; Withering abalone syndrome; Wobbly hedgehog syndrome; Wolcott–Rallison syndrome; Wolff–Parkinson–White syndrome; Wolfram syndrome; Wolf–Hirschhorn syndrome; Woodhouse ...