Results 11 to 20 of about 7,052 (205)
Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome. [PDF]
Neurogastroenterol MotilGanglion cells immunohistochemically labeled with pan‐neuronal marker HuC/D in sections from ileum. Note the different number of stained cells in the myenteric plexus. A, control subject, B, patient with SOX10 mutation (hypoganglionosis) C, patient with EDN3 mutation (aganlionosis). Both patients diagnosed with Waardenburg syndrome type 4 including gut
Ersson B +3 more
europepmc +2 more sources
A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
Endocrinology, Diabetes & Metabolism Case Reports, 2021 The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH ...
Tetsuji Wakabayashi +8 more
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Clinical and Experimental Optometry, 2011 Waardenburg syndrome (WS), first described by Dutch ophthalmologist PJ Waardenburg, is a congenital developmental disorder characterised by congenital hearing loss and abnormal pigmentation of the eye, hair and skin.1-10 This condition is divided into four types: •Type I WS (WS1) consists of dystopia canthorum and broad nasal root.
Bist, Jeewanand +2 more
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Hirschsprung disease, associated syndromes and genetics: A review [PDF]
, 2008 Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births.
Amiel, J +23 more
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Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis) [PDF]
, 2017 Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain ...
Campbell, M. S. +10 more
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Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome [PDF]
Revista Brasileira de Oftalmologia, 2023 Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes.
Paulo de Tarso Ponte Pierre-Filho +1 more
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Audiological Medicine, 1997 Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene ...
A P, Read, V E, Newton
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Stem Cell Research, 2022 Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells.
Xiaohong Li +10 more
doaj +1 more source
A Case Study of Two Siblings of Waardenburg Syndrome
Delhi Journal of Ophthalmology, 2019 Waardenburg syndrome is a rare genetically heterogenous disorder of neural crest cell development. Six distinctive features comprising this syndrome include: (1) telecanthus, (2) broad nasal root, (3) synophrys of the eyebrows, (4) a white forelock, (5 ...
Kritika Katoch +2 more
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The emerging roles of ribosome biogenesis in craniofacial development. [PDF]
, 2014 Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core +2 more sources