scholarly journals KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

2005 ◽  
Vol 85 (2) ◽  
pp. 152-155 ◽  
Author(s):  
Anette Bygum ◽  
Regina Betz ◽  
Knud Kragballe ◽  
Torben Steiniche ◽  
Nils Peeters ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Connexin 26 ◽  
Syndrome Report

A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad

2004 ◽  
Vol 51 (3) ◽  
pp. 377-382 ◽  
Author(s):  
Jay R. Montgomery ◽  
Thomas W. White ◽  
Bryan L. Martin ◽  
Maria L. Turner ◽  
Steven M. Holland
Keyword(s):  
Gene Mutation ◽  
Connexin 26

scholarly journals Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Claudio Fozza ◽  
Fausto Poddie ◽  
Salvatore Contini ◽  
Antonio Galleu ◽  
Francesca Cottoni ◽  
...  
Keyword(s):  
T Cell ◽  
Gene Mutation ◽  
Cell Lymphoma ◽  
Skin Lesions ◽  
T Cell Lymphoma ◽  
Congenital Disorder ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Peripheral T Cell Lymphoma ◽  
Rare Congenital Disorder

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical mutation and developed a T-cell lymphoma so far never described in this group of patients.

Connexin 26 gene mutation and autosomal recessive deafness

The Lancet ◽  
1998 ◽  
Vol 351 (9100) ◽  
pp. 383-384 ◽  
Author(s):  
William Reardon
Keyword(s):  
Gene Mutation ◽  
Autosomal Recessive ◽  
Connexin 26

scholarly journals Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

2010 ◽  
Vol 36 (1) ◽  
pp. 12 ◽  
Author(s):  
Grazia Taddeucci ◽  
Alice Bonuccelli ◽  
Ilaria Mantellassi ◽  
Alessandro Orsini ◽  
Enrico Tarantino
Keyword(s):  
Gene Mutation ◽  
Syndrome Report

Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V

2002 ◽  
Vol 109 (1) ◽  
pp. S78-S78
Author(s):  
Jay R Montgomery ◽  
Bryan L Martin ◽  
Isabelle Olivos-Glander ◽  
Marie Turner ◽  
Dirk Darnell ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Connexin 26 ◽  
Cutaneous Infections

Renal-coloboma syndrome: report of a novel PAX2 gene mutation

2001 ◽  
Vol 132 (6) ◽  
pp. 910-914 ◽  
Author(s):  
Gary W. Chung ◽  
Albert O. Edwards ◽  
Lisa A. SchimentiI ◽  
Glenda S. Manligas ◽  
Yao-hua Zhang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene ◽  
Syndrome Report

Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation

2013 ◽  
Vol 13 (2) ◽  
pp. 267-272 ◽  
Author(s):  
Shirin Hasani-Ranjbar ◽  
Masoud Rahmanian ◽  
Azadeh Ebrahim-Habibi ◽  
Akbar Soltani ◽  
Akbar Soltanzade ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Carcinoid Tumor ◽  
Cushing Syndrome ◽  
Thymic Carcinoid ◽  
Men1 Gene ◽  
Men1 Syndrome ◽  
Thymic Carcinoid Tumor ◽  
Syndrome Report
Sign in / Sign up

Export Citation Format

Share Document