Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Research Abstract Details 

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Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Abstract Text:

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Publishing Authors By Initials

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Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Journal Published:

PUBLICATION TYPE: Letter

Journal: Clinical genetics

VOLUME: 66

Page Numbers: 79-80

Journal Abbreviation: Clin. Genet.

ISSN: 0009-9163

DAY: 27

MONTH: Jul

YEAR: 2004

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Information

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LANGUAGE: eng

NlmUniqueID: 253664

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Keywords Mesh Terms:

KEYWORDS: Tumor Suppressor Proteins

MESH TERMS: genetics

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Substance Name: Tumor Suppressor Proteins

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Grant and Affiliation Information for Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

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Country: Denmark

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MEDLINETA: Clin Genet

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Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder Related Publications

• A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
• Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
• Glyc-O-genetics of Walker-Warburg syndrome.
• Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
• Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
• The p63 gene in EEC and other syndromes.