Rapp-Hodgkin syndrome

Rapp-Hodgkin syndrome
an autosomal dominant syndrome caused by mutations in the TP63 gene (locus: 3q27), which encodes a regulatory protein important in stem cell maintenance in stratified epithelial tissues, characterized by anhidrotic ectodermal dysplasia, cleft lip and palate, and mid face hypoplasia.

Medical dictionary. 2011.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Tietz syndrome — Not to be confused with Tietze syndrome. Tietz syndrome Classification and external resources ICD 10 E70.3 (ILDS E70.358) OMIM 103500 …   Wikipedia

  • Kabuki syndrome — Classification and external resources ICD 10 Q89.8 …   Wikipedia

  • Saethre-Chotzen syndrome — Classification and external resources OMIM 101400 DiseasesDB 29331 MeSH …   Wikipedia

  • Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

  • Mild androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Nail–patella syndrome — Classification and external resources Nail of a patient with nail patella syndrome ICD 10 Q …   Wikipedia

  • Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

  • Greig cephalopolysyndactyly syndrome — Classification and external resources OMIM 175700 …   Wikipedia

  • Pallister-Hall syndrome — Classification and external resources OMIM 146510 DiseasesDB 32013 MeSH …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”