참고문헌
- Kopp PA. Genetics and genomics. In: Brook C, Clayton P, Brown R, eds. Clinical pediatric endocrinology. 6th ed. Oxford: Wiley-Blackwell, 2009:1-23.
- Yoo HW. Genetic testing in clinical pediatric practice. Korean J Pediatr 2010;53:273-85. https://doi.org/10.3345/kjp.2010.53.3.273
- Savage MO, David A, Camacho-Hubner C, Metherell LA, Clark AJL. Phenotypic aspects of growth hormone-and IGF-1-resistant syndromes. Endocr Dev 2009;14:143-50. https://doi.org/10.1159/000207483
- Mullis PE. Genetic control of growth. Eur J Endocrinol 2005;152:11-31. https://doi.org/10.1530/eje.1.01797
- Lopez-Bermejo A, Buckway CK, Rosenfeld RG. Genetic defects of the growth hormone-insulin-like growth factor axis. Trends Endocrinol Metab 2000; 11:39-49. https://doi.org/10.1016/S1043-2760(99)00226-X
- Kelberman D, Dattani T. Hypothalamic and pituitary development: novel insights into the etiology. Eur J Endocrinol 2007;157:S3-S14 https://doi.org/10.1530/EJE-07-0156
- Walenkamp MJE, Wit JM. Genetic disorders in the growth hormone-insulin-like growth factor-1 axis. Horm Res 2006;66:221-30. https://doi.org/10.1159/000095161
- Kopp P. Perspective: Genetic defects in the etiology of congenital hypothyroidism. Endocrinol 2002;143:2019-24. https://doi.org/10.1210/en.143.6.2019
- Park SM, Chatterjee VKK. Genetics of congenital hypothyroidism. J Med Genet 2005;42:379-89. https://doi.org/10.1136/jmg.2004.024158
- Choi JH. Molecular aspects of congenital hypothyroidism. J Korean Soc Pediatr Endocrinol 2009;14: 87-93.
- Lin L, Ferraz-de-Souza B, Achermann JC. Genetic disorders involving adrenal development. Endocr Dev 2007;11:36-46. https://doi.org/10.1159/000111056
- Goncalves J, Friaes A, Moura L. Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency. Expert Rev Mol Med 2007; 9:1-23.
- Yoo HW, Kim GH. Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia. J Pediatr Endocrinol Metab 1998; 11:707-11. https://doi.org/10.1515/JPEM.1998.11.6.707
- Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm Res 2005;63:200-5. https://doi.org/10.1159/000085557
- Hiort O, Gillessen-Kaesbach G. Disorders of sex development in developmental syndromes. Endocr Dev 2009;14:174-80. https://doi.org/10.1159/000207486
- Forest MG. Diagnosis and treatment of disorders of sexual development. In: DeGroot LJ, Kameson JL, eds. Endocrinology. 5th ed. Philadelphia, WB Saunders Co, 2006:2779-830.
- McPhaul MJ. Androgen receptor mutations and androgen insensitivity. Mol Cell Endocrinol 2002;198:61-7. https://doi.org/10.1016/S0303-7207(02)00369-6
- Choi JH, Kim GH, Seo EJ, Kim KS, Kim SH, Yoo HW. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development. J Pediatr Endocrinol Metab 2008;21:545-53.
- Cohen MM. Persistent hyperinsulinemic hypoglycemia of infancy. Am J Med Genet 2003;122A:351-3. https://doi.org/10.1002/ajmg.a.20480
- James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet 2009; 46:189-99.
- Jin HY, Choi JH, Kim GH, Ko JM, Yoo HW. A case of hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamine dehydrogenase gene (GLUD1). J Korean Soc Pediatr Endocrinol 2009;14: 168-72.
- Layman LC. Hypogonadotropic hypogonadism. Endocrinol Metab Clin N Am 2007;36:283-96. https://doi.org/10.1016/j.ecl.2007.03.010
- Dode C, Hardelin JP. Kallmann syndrome. Eur J Hum Genet 2009;17:139-46. https://doi.org/10.1038/ejhg.2008.206
- Bhagavath B, Layman LC. The genetics of hypogonadotropic hypogonadism. Semin Reprod Med 2007; 25:272-86. https://doi.org/10.1055/s-2007-980221