Associated Papers
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Vona B et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
35543077 (PubMed )
Supplement: JDV-36-1606-s001.xlsx › Sheet1
De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).
Gorenjak M et al.
Molecular Genetics & Genomic Medicine, 2021
Familial progressive hyper- and hypopigmentation caused by a novel mutation in site II of the KITLG gene.
Liu Z et al.
The Journal of Dermatology, 2021
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.
Wang J et al.
Bmc Medical Genomics, 2021
Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation.
Kato M et al.
The Journal of Dermatology, 2020
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
Ogawa Y et al.
Pigment Cell & Melanoma Research, 2017
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
Sorlin A et al.
The Journal of Investigative Dermatology, 2017
Report of a child with sporadic familial progressive hyper- and hypopigmentation caused by a novel KITLG mutation.
Zhang J et al.
The British Journal of Dermatology, 2016
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Zazo Seco C et al.
American Journal of Human Genetics, 2015
KITLG mutations cause familial progressive hyper- and hypopigmentation.
Amyere M et al.
The Journal of Investigative Dermatology, 2011
The genetic determination of skin pigmentation: KITLG and the KITLG/c-Kit pathway as key players in the onset of human familial pigmentary diseases.
Picardo M et al.
The Journal of Investigative Dermatology, 2011
A novel KITLG mutation causes familial progressive hyperpigmentation and hypopigmentation with multiple café-au-lait macules.
Huang X et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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