Associated Papers
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S et al.
Bmc Medical Genomics, 2022
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.
Moldenæs MF et al.
European Journal of Medical Genetics, 2021
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development.
Wen J et al.
Frontiers in Cell and Developmental Biology, 2021
[Identification of a novel mutation of SOX10 gene and analysis of the phenotype].
Zhang QJ et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2020
Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.
Yu X et al.
Neural Plasticity, 2020
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.
Itoh K et al.
The Journal of Dermatology, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.
Shin SJ et al.
Annals of Pediatric Endocrinology & Metabolism, 2015
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
Suzuki E et al.
Hormone Research in Paediatrics, 2015
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
Pingault V et al.
American Journal of Medical Genetics. Part A, 2014
The role of SOX10 during enteric nervous system development.
Bondurand N et al.
Developmental Biology, 2013