Leprechaunism - a case report. - Suppr

Leprechaunism - a case report.

作者信息

Sen Sumit, Roy Ajitesh, Gangopadhyay Anusree, Halder Chinmay

机构信息

Departments of Dermatology and Endocrinology, Institute of Postgraduate Medical Education and Research, Kolkata, West Bengal, India. E-mail:

出版信息

Indian J Dermatol. 2012 Nov;57(6):499-501. doi: 10.4103/0019-5154.103077.

DOI:10.4103/0019-5154.103077

PMID:23248375

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3519264/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54b7/3519264/9fdfed75ae4b/IJD-57-499b-g001.jpg

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本文引用的文献

DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT.

Arch Dis Child. 1963 Oct;38(201):530-5. doi: 10.1136/adc.38.201.530.

Ocular manifestations of Donohue's syndrome.

Optom Vis Sci. 2003 May;80(5):339-43. doi: 10.1097/00006324-200305000-00008.

Genotype-phenotype correlation in inherited severe insulin resistance.

Hum Mol Genet. 2002 Jun 1;11(12):1465-75. doi: 10.1093/hmg/11.12.1465.

Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C.

J Clin Endocrinol Metab. 1982 Oct;55(4):741-8. doi: 10.1210/jcem-55-4-741.

Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.

J Med Genet. 1977 Oct;14(5):383-6. doi: 10.1136/jmg.14.5.383.

Leprechaunism (Donohue's syndrome) in a low birth weight infant.

South Med J. 1977 Aug;70(8):998-1001. doi: 10.1097/00007611-197708000-00031.

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