textabstractLinkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286-303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with NS-UHL/AHL as a dominant trait with reduced penetrance. By screening a panel of probands with NS-UHL/AHL, we found an additional mutation, c.200-202del (p.His67-Cys68delinsArg). In vitro studies revealed that the p.His67-Cys68delinsArg transmembrane isoform of KITLG is not detectable at the cell membrane, supporting pathogenicity. KITLG encodes a ligand for the KIT receptor. Also, KITLG-KIT signaling and MITF are suggested to mutually interact in mel...
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations ...
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations ...
Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and ...
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable n...
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable n...
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable n...
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of s...
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural cres...
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural cres...
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigm...
Waardenburg syndrome (WS) is a dominant inherited disorder characterized by pigmentary abnormalities...
Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritanc...
AbstractMicrophthalmia-associated transcription factor (MITF) controls melanocyte survival and diffe...
Abstract Background Waardenburg syndrome (WS) is a rare autosomal‐dominant syndrome and is character...
Abstract Background The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder ...
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations ...
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations ...
Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and ...
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable n...
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable n...
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable n...
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of s...
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural cres...
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural cres...
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigm...
Waardenburg syndrome (WS) is a dominant inherited disorder characterized by pigmentary abnormalities...
Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritanc...
AbstractMicrophthalmia-associated transcription factor (MITF) controls melanocyte survival and diffe...
Abstract Background Waardenburg syndrome (WS) is a rare autosomal‐dominant syndrome and is character...
Abstract Background The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder ...
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations ...
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations ...
Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and ...