Hereditary Hearing Impairment with Cutaneous Abnormalities.
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PMID:33396879
Vohwinkel Syndrome.
Saleh D, Saleh HM, Tanner LS.
2023 Nov 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:30335335
IDEDNIK Syndrome.
Alsaif HS, Alkuraya FS.
2024 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:39541497
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.
PMID:32745176
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.
PMID:27316387
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.
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; 1993–2025.