48,868
edits
Difference between revisions of "Cowden syndrome"
Jump to navigation
Jump to search
m
→Molecular
(→Molecular: more) |
m (→Molecular) |
||
| Line 5: | Line 5: | ||
*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | *Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | ||
Notes: | |||
*Several syndromes are associated with PTEN mutations:<ref name=pmid21190448>{{Cite journal | last1 = Laury | first1 = AR. | last2 = Bongiovanni | first2 = M. | last3 = Tille | first3 = JC. | last4 = Kozakewich | first4 = H. | last5 = Nosé | first5 = V. | title = Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. | journal = Thyroid | volume = 21 | issue = 2 | pages = 135-44 | month = Feb | year = 2011 | doi = 10.1089/thy.2010.0226 | PMID = 21190448 }}</ref><ref name=omim601728>{{OMIM|601728}}</ref> | *Several syndromes are associated with PTEN mutations:<ref name=pmid21190448>{{Cite journal | last1 = Laury | first1 = AR. | last2 = Bongiovanni | first2 = M. | last3 = Tille | first3 = JC. | last4 = Kozakewich | first4 = H. | last5 = Nosé | first5 = V. | title = Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. | journal = Thyroid | volume = 21 | issue = 2 | pages = 135-44 | month = Feb | year = 2011 | doi = 10.1089/thy.2010.0226 | PMID = 21190448 }}</ref><ref name=omim601728>{{OMIM|601728}}</ref> | ||
**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{omim|153480}}</ref> | **Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{omim|153480}}</ref> | ||
**Proteus-like syndrome.<ref name=omim158350>{{OMIM|158350}}</ref> | **Proteus-like syndrome.<ref name=omim158350>{{OMIM|158350}}</ref> | ||
**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM|158350}}</ref> | **Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM|158350}}</ref> | ||
===Trivia=== | |||
*The ''PTEN gene'' is located on chromosome ten. | |||
==Clinical== | ==Clinical== | ||