Hereditary Hearing Impairment with Cutaneous Abnormalities.
Lee TL, Lin PH, Chen PL, Hong JB, Wu CC.
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Vohwinkel Syndrome.
Saleh D, Saleh HM, Tanner LS.
2023 Nov 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
Nonsyndromic Hearing Loss and Deafness, Mitochondrial.
Usami SI, Nishio SY.
2004 Oct 22 [updated 2018 Jun 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Bart-Pumphrey Syndrome.
Al-Hamdi KI, Qais Saadoon A, Abduljabbar NH.
JAMA Dermatol. 2020 Oct 1;156(10):1126. doi: 10.1001/jamadermatol.2020.2555.
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Bousfiha A, Bakhchane A, Elrharchi S, Dehbi H, Kabine M, Nadifi S, Charoute H, Barakat A.
Curr Res Transl Med. 2016 Apr-Jun;64(2):61-4. doi: 10.1016/j.retram.2016.01.011. Epub 2016 Mar 4.
Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma.
Lam MW, Veitch D, Woo PN.
Int J Dermatol. 2020 Dec;59(12):e454-e455. doi: 10.1111/ijd.15139. Epub 2020 Aug 17.
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R, Gasparini P, Estivill X.
Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I.
G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.
Babanejad M, Zarandy MM, Nikzat N, Bazazzadegan N, Arzhangi S, Mohseni M, Kahrizi K, Najmabadi H.
Int J Pediatr Otorhinolaryngol. 2019 Nov;126:109607. doi: 10.1016/j.ijporl.2019.109607. Epub 2019 Jul 26.
KID syndrome.
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A.
Dermatol Online J. 2007 Oct 13;13(4):11.
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464.
