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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.
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy.There are two forms: UCMD1 and UCMD2. [4]UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
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 ...
Turner syndrome occurs due to partial or complete absence of one of the X chromosomes, resulting in 45,XO or 45,X. Some associated characteristics include short stature, a broad shield-like chest, webbed neck, premature ovarian failure, and heart and kidney abnormalities. [ 8 ]
Max “rapidly declined and went into full-body paralysis,” wrote Chelsea in an Aug. 2 post. The 3-year-old spent several days on a ventilator to support his lung function.
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended. A small degree of cubitus valgus (known as the carrying angle) is acceptable and occurs in the general population.
A final photo has emerged of North Carolina grandparents on the roof of their home, surrounded by floodwaters, minutes before they drowned due to Hurricane Helene. Jessica Drye Turner’s family ...