Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
about
Protean PTEN: form and functionHamartomatous polyposis syndromesHereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromesA novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancerGenetics of skin appendage neoplasms and related syndromes.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome.Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing
P2860
Q24613810-C2AA32BD-D389-4D8B-8DBE-5C9089ECDFF3Q24654006-F2A3D997-5F57-419F-BEAA-A8CAA8D96DB7Q33916338-FD10B3D8-CC77-487C-BB0A-4C86986BF31FQ34579796-C7327B41-5924-4494-838F-1C332C2C3BCDQ35048620-5B228F33-30B0-4689-A049-BB7DCBED9794Q35086943-F878F847-FA19-40DE-98C5-5A0E5122FEBEQ35447362-85EA27CF-17E8-4976-AE72-18ED782AAA4AQ36251993-4E14B151-7C29-42C3-A95C-676764456013Q37181471-0D645FBA-3415-4B8A-912D-0557DE3DA754Q57646614-08724331-B218-4781-AF2F-3D79D00FCE82
P2860
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@ast
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@en
type
label
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@ast
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@en
prefLabel
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@ast
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@en
P2093
P2860
P1476
Phenotypic findings of Cowden ...... ngle germline mutation in PTEN
@en
P2093
J T Celebi
M G Lebwohl
M Peacocke
P2860
P304
P407
P577
1999-05-01T00:00:00Z