A rare case of pachyonychia congenita due to a p.N125S mutation in the keratin 16 gene

2015 ◽  
Vol 72 (5) ◽  
pp. AB196
Keyword(s):  
Rare Case ◽  
Keratin 16 ◽  
Pachyonychia Congenita

Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16

2001 ◽  
Vol 144 (5) ◽  
pp. 1058-1062 ◽  
Author(s):  
J.B. Connors ◽  
A.K. Rahil ◽  
F.J.D. Smith ◽  
W.H.I. Mclean ◽  
L.M. Milstone
Keyword(s):  
Novel Mutation ◽  
Keratin 16 ◽  
Delayed Onset ◽  
Pachyonychia Congenita

scholarly journals Pachyonychia congenita tarda: A rare case report

2013 ◽  
Vol 4 (3) ◽  
pp. 409 ◽  
Author(s):  
Ganapathi Moger ◽  
MC Shashikanth ◽  
KT Chandrashekar ◽  
Sophia Kurein
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Rare Case Report ◽  
Pachyonychia Congenita

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

2000 ◽  
Vol 9 (3) ◽  
pp. 170-177 ◽  
Author(s):  
F. J. D. Smith ◽  
M. P. Fisher ◽  
E. Healy ◽  
J. L. Rees ◽  
J. M. Bonifas ◽  
...  
Keyword(s):  
Protein Expression ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Expression Studies ◽  
Pachyonychia Congenita

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

1999 ◽  
Vol 141 (6) ◽  
pp. 1010-1016 ◽  
Author(s):  
F.J.D. Smith ◽  
M. Del Monaco ◽  
P.M. Steijlen ◽  
C.S. Munro ◽  
M. Morvay ◽  
...  
Keyword(s):  
Keratin 16 ◽  
Proline Substitution ◽  
Substitution Mutations ◽  
Pachyonychia Congenita

A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma

2011 ◽  
Vol 165 (5) ◽  
pp. 1145-1147 ◽  
Author(s):  
L-H. Cao ◽  
Y. Luo ◽  
W. Wen ◽  
W-L. Liu ◽  
L. Jiang ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Pachyonychia Congenita

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1995 ◽  
Vol 9 (3) ◽  
pp. 273-278 ◽  
Author(s):  
W.H.I. McLean ◽  
E.L. Rugg ◽  
D.P. Lunny ◽  
S.M. Morley ◽  
E.B. Lane ◽  
...  
Keyword(s):  
Keratin 16 ◽  
Keratin 17 ◽  
Pachyonychia Congenita

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

1999 ◽  
Vol 19 (10) ◽  
pp. 941-946 ◽  
Author(s):  
Frances J. D. Smith ◽  
Victor A. McKusick ◽  
Karl Nielsen ◽  
Ellen Pfendner ◽  
Jouni Uitto ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Keratin 16 ◽  
Pachyonychia Congenita
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