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Keywords: Haploinsufficiency
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Journal Articles
Horm Res Paediatr (2011) 75 (2): 81–89.
Published Online: 04 February 2011
... from any ideas, methods, instructions or products referred to in the content or advertisements. Haploinsufficiency Madelung deformity Idiopathic short stature Leri-Weill syndrome Dyschondrosteosis Statural growth and adult height are regulated by a complex system of endocrine factors...
Journal Articles
Hormone Research (2004) 62 (Suppl. 3): 60–65.
Published Online: 17 November 2004
... protein truncation types and six missense types) and 50 (45%) a ∼0.7-Mb microdeletion involving NSD1 . The results indicated that haploinsufficiency of NSD1 is the major cause of Sotos syndrome, and NSD1 plays a role in growth and brain development in humans. Detailed clinical examinations provided...
Journal Articles
Hormone Research (2003) 59 (Suppl. 1): 106–113.
Published Online: 17 November 2004
.... Deletion mapping in the few atypical patients with smaller deletions suggested that additive effects of haploinsufficiency for two or more genes might be necessary for the phenotype. Vascular stenoses are caused by haploinsufficiency at the elastin gene, while the genes responsible for the cognitive...