Growth Disorders: Hereditary

Abstract

A variety of familial endocrine and other Mendelian disorders, as well as syndromes and cytogenetic disorders that affect growth, are caused by mutations in genes that function in metabolic pathways.

Keywords: growth hormone; congenital adrenal hyperplasia; isolated growth hormone deficiency; combined pituitary hormone deficiency; endocrinopathies; chromosomal disorders

References

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Cogan JD, Wu W, Phillips III JA, et al. (1998) The PROP1 2‐bp deletion is a common cause of CPHD. Journal of Clinical Endocrinology and Metabolism 83: 3346–3349.

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Wu W, Cogan JD, Pfaffle RW, et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nature Genetics 18: 147–149.

Further Reading

Baxter JD, Melmed S and New MI (eds.) (2002) Genetics in Endocrinology. Philadelphia, PA: Lippincott Williams & Wilkins.

Web Links

Online Mendelian Inheritance in Man (OMIM). Source of information on genes, diseases; DNA, mapping & mutations http://www.ncbi.nlm.nih.gov/omim

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How to Cite close
Phillips, John A(Jan 2006) Growth Disorders: Hereditary. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005944]