- Tytuł:
-
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2,
KIT , EDN3 and EDNRB genes]. - Autorzy:
- Transliterated Title:
-
Hipomelanocytozy dziedziczne: rola genów PAX3, SOX10, MITF, SNAI2,
KIT , EDN3 i EDNRB. - Źródło:
- Postepy higieny i medycyny doswiadczalnej (Online) [Postepy Hig Med Dosw (Online)] 2013 Nov 26; Vol. 67, pp. 1109-18. Date of Electronic Publication: 2013 Nov 26.
- Typ publikacji:
- Journal Article; Review
- MeSH Terms:
-
Mutation*
Endothelin-3/*metabolism
Microphthalmia-Associated Transcription Factor/*genetics
Paired Box Transcription Factors/*genetics
Proto-Oncogene Proteinsc -kit /*genetics
Receptors, Endothelin/*metabolism
SOXE Transcription Factors/*genetics
Transcription Factors/*genetics
Waardenburg Syndrome/*genetics
Albinism, Oculocutaneous/genetics ; Deafness/genetics ; Heterozygote ; Humans ; PAX3 Transcription Factor ; Phenotype ; Piebaldism/genetics ; Receptor, Endothelin B ; Snail Family Transcription Factors ; Waardenburg Syndrome/classification - SCR Disease Name:
- Tietz syndrome
Czasopismo naukowe