ReviewJournal of otology2018
Case of Waardenburg Shah syndrome in a family with review of literature.
Review in Journal of otology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Auditory and speech outcomes of cochlear implantation in patients with Waardenburg syndrome: a meta-analysis.Frontiers in neurology · 2024Pooled it
- [Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2026Article
- Waardenburg-Shah Syndrome: Diagnostic and Surgical Challenges in a Resource-Limited Setting - A Rare Case Report.International medical case reports journal · 2026Article
- Revealing heterogeneity and damage response in the adult human utricle.Nature communications · 2025Article
- A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.Children (Basel, Switzerland) · 2025Review
- Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.International journal of molecular sciences · 2025Article
- Three NovelAnimals : an open access journal from MDPI · 2025Article
- A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.BMC medical genomics · 2023Article
- Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.PloS one · 2021Article
- Article
- Article
- A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.The Journal of heredity · 2020Article
- Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
- Waardenburg Syndrome in a Family.International journal of trichologyArticle
Corrections and comments
- Erratum issued
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.