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Growth curves from this study revealed that growth failure was due to: (a) mild growth retardation in utero , (b) slow growth during infancy, (c) delayed onset of the childhood component of growth, and (d) slow growth during childhood.54 Untreated, the average height of women with TS is 143 cm (4 ft 8 in) which is approximately 20 cm (8 in) below the average height of women in the US.55 Etiology of short stature The etiology of short stature and skeletal abnormalities in TS results in part from haploinsufficiency of the short stature homeobox-containing ( SHOX ) gene located in the pseudo-autosomal region of the X-chromosome.56 SHOX deficiency was identified in girls with TS as well as a small subset (~1% to 2%) of children with idiopathic short stature.56 The SHOX gene is an important controller of bone growth that regulates chondrocyte differentiation and maturation

Retsa C, Knebel JF, Geiser E, Ferrari C, Jenni R, Fournier M, et al

Sawhney, J

Clinical next generation sequencing for precision medicine in cancer

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