A novel missense mutation in theTRPS1gene underlies trichorhinophalangeal syndrome type III

2008 ◽  
Vol 159 (2) ◽  
pp. 476-478 ◽  
Author(s):  
M. Tariq ◽  
S. Ahmad ◽  
W. Ahmad
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Type Iii ◽  
Trichorhinophalangeal Syndrome

Trichorhinophalangeal Syndrome Type III

Dermatology ◽  
1996 ◽  
Vol 193 (4) ◽  
pp. 349-352 ◽  
Author(s):  
P.H. Itin ◽  
S. Bohn ◽  
D. Mathys ◽  
R. Guggenheim ◽  
G. Richard
Keyword(s):  
Syndrome Type ◽  
Type Iii ◽  
Trichorhinophalangeal Syndrome

Sporadic case of trichorhinophalangeal syndrome type III in a European patient

1999 ◽  
Vol 85 (5) ◽  
pp. 495-497 ◽  
Author(s):  
Catheline Vilain ◽  
Yves Sznajer ◽  
Fran�oise Rypens ◽  
Daniel D�sir ◽  
Marc J. Abramowicz
Keyword(s):  
Sporadic Case ◽  
Syndrome Type ◽  
Type Iii ◽  
Trichorhinophalangeal Syndrome

Trichorhinophalangeal syndrome type III in Turkish siblings

2006 ◽  
Vol 95 (11) ◽  
pp. 1511-1513
Author(s):  
Vildan Ertekin ◽  
Mukadder Ayşe Selimoğlu ◽  
Erol Selimoğlu ◽  
Osman Fidanoğlu
Keyword(s):  
Syndrome Type ◽  
Type Iii ◽  
Trichorhinophalangeal Syndrome

Missense mutation ofTRPS1 in a family of tricho-rhino-phalangeal syndrome type III

2002 ◽  
Vol 107 (1) ◽  
pp. 26-29 ◽  
Author(s):  
Hiromasa Kobayashi ◽  
Megumu Hino ◽  
Makiko Shimodahira ◽  
Toshio Iwakura ◽  
Takashi Ishihara ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Type Iii

Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I

2007 ◽  
Vol 157 (5) ◽  
pp. 1021-1024 ◽  
Author(s):  
A. Rossi ◽  
V. Devirgiliis ◽  
V. Panasiti ◽  
R.G. Borroni ◽  
M. Carlesimo ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Mild Form ◽  
Italian Family ◽  
Trichorhinophalangeal Syndrome

The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III

1986 ◽  
Vol 24 (4) ◽  
pp. 759-760 ◽  
Author(s):  
Nario Niikawa ◽  
Tsutomu Kamei ◽  
John M. Opitz
Keyword(s):  
Syndrome Type ◽  
Type Iii

A Familial Case of Trichorhinophalangeal Syndrome Type I

2009 ◽  
Vol 26 (2) ◽  
pp. 171-175 ◽  
Author(s):  
Mario Vaccaro ◽  
Fabrizio Guarneri ◽  
Olga Barbuzza ◽  
Michele Gaeta ◽  
Claudio Guarneri
Keyword(s):  
Familial Case ◽  
Type I ◽  
Syndrome Type ◽  
Trichorhinophalangeal Syndrome
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