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TP73L gene mutation; p63 gene mutation
Clinical significance:
- defects in TP63 are the cause of
a) acro-dermato-ungual-acrimal-tooth syndrome (ADULT syndrome)
b) ankyloblepharon-ectodermal defects-cleft lip/palate
c) ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3)
d) split-hand/foot malformation 4
e) limb-mammary syndrome
f) ectodermal dysplasia Rapp-Hodgkin type
g) non-syndromic orofacial cleft type 8
f) cervical cancer, colon cancer, head & neck cancer, lung cancer & ovarian cancer
Related
p63 protein; p53 homolog p63; tumor protein p73-like; p73L; TP63; p51; p40; keratinocyte transcription factor KET; chronic ulcerative stomatitis protein (CUSP, TP73L, KET, p63, P73H)
General
gene mutation testing; gene mutation analysis