Results 41 to 50 of about 3,568 (145)
Open angle glaucoma as a manifestation of Waardenburg′s syndrome.
Indian Journal of Ophthalmology, 2000 Waardenburg′s syndrome is a rare, autosomal dominant disorder, with several clinical signs, each with variable penetrance. We report this case of Waardenburg′s syndrome with bilateral open-angle glaucoma with unique gonioscopic findings.
Gupta Viney, Aggarwal Harish
doaj
Ecology and Evolution, Volume 15, Issue 9, September 2025.The colour of amphibian skin and eyes is the result of light interacting with multiple chromatophores (xanthophores, iridophores and melanophores), leading to challenges when trying to identify which of these cells are involved in colour abnormalities.
John Gould
wiley +1 more source
The Pan African Medical Journal, 2015 Le syndrome de Waardenburg associe une surdité à des anomalies de pigmentation. Ce syndrome est autosomique dominant à pénétrance et expressivité variable en inter et en intra familial, d'où l'intérêt du diagnostic prénatal dans les cas à risque. Le type
Mahfoudhi Madiha, Khamassi Khaled
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Formosan Journal of Surgery, 2017 Introduction: Shah-Waardenburg syndrome (SWS) is WS associated with Hirschsprung's disease. It is very rare with
Rahul Gupta +5 more
doaj +1 more source
YY1 regulates melanocyte development and function by cooperating with MITF. [PDF]
PLoS Genetics, 2012 Studies of coat color mutants have greatly contributed to the discovery of genes that regulate melanocyte development and function. Here, we generated Yy1 conditional knockout mice in the melanocyte-lineage and observed profound melanocyte deficiency and
Juying Li +10 more
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Advanced Science, Volume 12, Issue 29, August 7, 2025.Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng +11 more
wiley +1 more source
Pigmentary Mosaicism: An Overview
JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant +3 more
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Health Research in AfricaRÉSUMÉ Le syndrome de Waardenburg est une maladie génétique rare caractérisée par une surdité neurosensorielle et des anomalies de la pigmentation. Sa prévalence est estimée à 1/40 000 naissances.
Elien Gagnan YRR +3 more
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Categories of Cutaneous Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley +1 more source
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. [PDF]
PLoS ONE, 2016 The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a ...
Hong Wu +11 more
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