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Rapp Hodgkin Syndrome.

作者信息

Chatterjee Manas, Neema Shekhar, Mukherjee Sweta

机构信息

Department of Dermatology, Command Hospital (EC), Kolkata, West Bengal, India.

Department of Pediatrics, Command Hospital (EC), Kolkata, West Bengal, India.

出版信息

Indian Dermatol Online J. 2017 May-Jun;8(3):215-216. doi: 10.4103/idoj.IDOJ_100_16.

DOI:10.4103/idoj.IDOJ_100_16

PMID:28584763

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5447346/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb6c/5447346/c3e745187ec6/IDOJ-8-215-g002.jpg

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The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.

Eur J Hum Genet. 2003 Sep;11(9):700-4. doi: 10.1038/sj.ejhg.5201004.

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3.

Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

Br J Dermatol. 1994 Jan;130(1):97-101. doi: 10.1111/j.1365-2133.1994.tb06891.x.

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.

Clin Genet. 1982 May;21(5):297-300. doi: 10.1111/j.1399-0004.1982.tb01375.x.

Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).

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Br J Dermatol. 1994 Jan;130(1):97-101. doi: 10.1111/j.1365-2133.1994.tb06891.x.

A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.

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Acta Paediatr Scand. 1990 Feb;79(2):245-7. doi: 10.1111/j.1651-2227.1990.tb11450.x.

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Am J Med Genet. 1991 Jan;38(1):107-10. doi: 10.1002/ajmg.1320380124.

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Eur J Hum Genet. 2003 Sep;11(9):700-4. doi: 10.1038/sj.ejhg.5201004.

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Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3.

Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

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Clin Genet. 1982 May;21(5):297-300. doi: 10.1111/j.1399-0004.1982.tb01375.x.

Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).

Birth Defects Orig Artic Ser. 1988;24(2):149-68.