Congenital sensorineural hearing loss as the initial presentation of
Adolescent
Animals
Asian People
/ genetics
Child
Child, Preschool
Cohort Studies
Female
Gene Knockdown Techniques
Hearing Loss, Sensorineural
/ complications
Humans
Incidence
Infant
Male
Mice
Noonan Syndrome
/ genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11
/ genetics
Signal Transduction
Wnt Proteins
/ metabolism
Zebrafish
beta Catenin
/ metabolism
clinical genetics
diagnosis
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
03
02
2020
revised:
22
05
2020
accepted:
02
06
2020
pubmed:
2
8
2020
medline:
28
1
2022
entrez:
2
8
2020
Statut:
ppublish
Résumé
Germline variants in A total of 1502 patients with congenital SNHL were enrolled. Detailed phenotype-genotype correlations were analysed in patients with Ten NSML/NS probands were diagnosed via the identification of pathogenic variants of Screening for
Sections du résumé
BACKGROUND
Germline variants in
METHODS
A total of 1502 patients with congenital SNHL were enrolled. Detailed phenotype-genotype correlations were analysed in patients with
RESULTS
Ten NSML/NS probands were diagnosed via the identification of pathogenic variants of
CONCLUSION
Screening for
Identifiants
pubmed: 32737134
pii: jmedgenet-2020-106892
doi: 10.1136/jmedgenet-2020-106892
doi:
Substances chimiques
Wnt Proteins
0
beta Catenin
0
PTPN11 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 11
EC 3.1.3.48
Ptpn11 protein, mouse
EC 3.1.3.48
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
465-474Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.