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22
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Growth hormone deficiency
- ... GH1 gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short ... large section of the gene, result in isolated growth hormone deficiency type IA and severe growth failure by age ...
- ... GHRHR gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short ... the GHRHR gene cause some cases of isolated growth hormone deficiency type IB. Most of these mutations replace single ...
- ... BTK gene have been found to cause isolated growth hormone deficiency type III, a condition characterized by slow growth, ... version of the BTK protein. People with isolated growth hormone deficiency are prone to infections because they produce very ...
- ... S, de Cabo R, Cohen P, Longo VD. Growth hormone receptor deficiency is associated with a major reduction in pro- ... insight into the relationship from a cohort with growth hormone receptor deficiency. Diabetologia. 2015 Jan;58(1):37-42. doi: ...
- ... a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 ...
- ... R, Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol. 2012 Jul; ...
- ... tyrosyl protein kinase Tests of FGFR1 PubMed FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1 NCBI Gene ClinVar Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [updated 2022 May 12]. In: ...
- ... brain. The pituitary gland releases hormones needed for growth, reproduction, and other ... combined pituitary hormone deficiency. The most common mutation deletes two DNA building ...
- ... estrogen and increased levels of androgens. These abnormal hormone levels ... aromatase deficiency decrease or eliminate aromatase activity. A lack of ...
- ... to the neurological problems characteristic of GABA-transaminase deficiency. Excess GABA also leads to abnormal release of a protein that is necessary for growth of the body's bones and tissues (growth hormone), resulting in the accelerated linear growth that sometimes ...
