References
- Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen
M et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal
dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May;70(5):1341-8. PubMed | Google
Scholar
- Van Steensel MA, Van Geel M, Nahuys M, Smitt JH, Steijlen
PM. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness
syndrome. J Invest Dermatol. 2002 Apr;118(4):724-7. PubMed | Google
Scholar
- Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol. 1996 Mar-Apr;13(2):105-13. PubMed | Google Scholar
- Barruet K, Saka B, Kombate K, Mouhari-Toure A, Nguepmeni
Noune J, Akakpo S et al. Keratitis-ichthyosis-deafness (KID) syndrome: an observation
in a child in sub-Saharan Africa. Ann Dermatol Venereol. 2011 May;138(5):453-5. PubMed | Google
Scholar
- Wonkam A, Noubiap JJ, Bosch J, Dandara C, Toure GB. Heterozygous p. Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Med Genet. 2013;14:81. PubMed | Google Scholar
- Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka
A, Akamatsu H et al. Novel mutations in GJB2 encoding connexin-26 in Japanese
patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol. 2003 Apr;148(4):649-53. PubMed | Google
Scholar
- Janecke AR, Hennies HC, Gunther B, Gansl G, Smolle J,
Messmer EM et al. GJB2 mutations in keratitis-ichthyosis-deafness syndrome
including its fatal form. Am J Med Genet A. 2005 Mar 1;133A(2):128-31. PubMed | Google
Scholar
- Binder B, Hennies HC, Kraschl R, Smolle J. Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome. J Dtsch Dermatol Ges. 2005 Feb;3(2):105-8. PubMed | Google Scholar
- Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man
SY, Bodemer C, Prins C et al. Keratitis-ichthyosis-deafness syndrome: disease
expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br
J Dermatol. 2007 May;156(5):1015-9. PubMed | Google
Scholar
- Nemoto-Hasebe I, Akiyama M, Yamada N, Inoue Y, Touge C, Shimizu H. Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment. Acta Derm Venereol. 2008;88(4):406-8. PubMed | Google Scholar
- Kone-Paut I, Hesse S, Palix C, Rey R, Remediani K, Garnier
JM et al. Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.
Pediatr Dermatol. 1998 May-Jun;15(3):219-21. PubMed | Google
Scholar
- Tsuzuku T, Kaga K, Kanematsu S, Shibata A, Ohde S. Temporal bone findings in keratitis, ichthyosis, and deafness syndrome: Case report. Ann Otol Rhinol Laryngol. 1992 May;101(5):413-6. PubMed | Google Scholar