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| Monogenic short stature v2.9 | GHSR | Melissa Connolly changed review comment from: Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of patients with low to normal IGF1 or SS with normal serum GH responses to GH stimulation testing.; to: Gene included in a list of the ten most prevalent genetic causes of isolated short stature in the International guideline on genetic testing of children with Short stature (Supplementary information 4). Text references reports of patients with low to normal IGF1 or SS with normal serum GH responses to GH stimulation testing. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | GHSR | Melissa Connolly edited their review of gene: GHSR: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | GHSR | Melissa Connolly reviewed gene: GHSR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 41543979; Phenotypes: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.110 | GHSR | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.110 | GHSR |
Arina Puzriakova gene: GHSR was added gene: GHSR was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GHSR were set to 16511605 Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency |
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