KID/HID syndrome
Definition:
References:
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[1]. H Caceres-Rios, et al. 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. [Content Brief]
[2]. Hessa S Alsaif, et al. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. [Content Brief]
[3]. I Todt, et al. Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. Audiol Neurootol. 2006;11(4):242-8. [Content Brief]
[4]. J Mazereeuw-Hautier, 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. [Content Brief]
[5]. K Langer, et al. Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. Br J Dermatol. 1990 May;122(5):689-97. [Content Brief]
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