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Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS, Dattani MT. Alatzoglou KS, et al. Indian J Pediatr. 2012 Jan;79(1):99-106. doi: 10.1007/s12098-011-0614-7. Epub 2011 Dec 3. Indian J Pediatr. 2012. PMID: 22139958 Review.
Isolated growth hormone deficiency (IGHD) may be congenital, often due to genetic mutations, or acquired as a result of other factors such as cranial irradiation. The commonest genes implicated in its genetic etiology are those encoding growth
Isolated growth hormone deficiency (IGHD) may be congenital, often due to genetic mutations, or acquired as a re
Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones.
Mullis PE, Deladoëy J, Dannies PS. Mullis PE, et al. Horm Res. 2002;58(2):53-66. doi: 10.1159/000064663. Horm Res. 2002. PMID: 12207163 Review.
Estimates of the frequency of GH deficiency range from 1:4,000 to 1:10,000. Most cases are sporadic and presumed to be secondary to a wide variety of aetiologies. ...Two forms are autosomal recessively (IGHD type IA and IB), one is autosomal dominantly (IGHD …
Estimates of the frequency of GH deficiency range from 1:4,000 to 1:10,000. Most cases are sporadic and presumed to be secondary to a …
Molecular basis of familial growth hormone deficiency.
Pérez Jurado LA, Argente J. Pérez Jurado LA, et al. Horm Res. 1994;42(4-5):189-97. doi: 10.1159/000184192. Horm Res. 1994. PMID: 7868072 Review.
A significant proportion of cases of GH deficiency (5-30%) may be due to genetic causes. At least four Mendelian types of isolated GH deficiency (IGHD) have been delineated based on the mode of inheritance and the degree of GH deficiency: IGHD type
A significant proportion of cases of GH deficiency (5-30%) may be due to genetic causes. At least four Mendelian types of isolated
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.
Mullis PE, Deladoëy J, Dannies PS. Mullis PE, et al. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1301-10. J Pediatr Endocrinol Metab. 2002. PMID: 12510984 Review.
Estimates of the frequency of growth hormone deficiency (GHD) range from 1:4,000 to 1:10,000. Most cases are sporadic and presumed to be secondary to one of a wide variety of causes. ...Two forms are inherited autosomal recessively (IGHD type IA and …
Estimates of the frequency of growth hormone deficiency (GHD) range from 1:4,000 to 1:10,000. Most cases are sporadic a …