Results 21 to 30 of about 433 (176)
Indian Journal of Otolaryngology and Head and Neck Surgery, 2004 We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes).
Manish, Mehta +2 more
openaire +3 more sources
Homologs of genes and anonymous loci on human Chromosome 13 map to mouse Chromosomes 8 and 14 [PDF]
, 1995 To enhance the comparative map for human Chromosome (Chr) 13, we identified clones for human genes and anonymous loci that cross-hybridized with their mouse homologs and then used linkage crosses for mapping.
A. Bowcock +37 more
core +1 more source
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley +1 more source
Albinism : a case report [PDF]
, 1973 Albinism means the absence of cutaneous pigments. This is a rare hereditary disorder of the skin found in all races. The basic defect is an inherent deficiency of the enzyme tyrosinase usually found in melanocytes. Albinism can be total or partial.
Psaila, Angelo J.
core
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Kingship and the Hero's Flaw: Disfigurement as Ideological Vehicle in Early Irish Narrative [PDF]
, 1998 Produced by Hawai'i University Affiliated Program on Disabilities, University of Hawai'i at Manoa, Honolulu, Hawai'i, Frank Sawyer School of Management, Suffolk University, Boston, Massachusetts, and School of Social Sciences, The University of Texas at ...
Sayers, William
core
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Waardenburg syndrome (WS) [PDF]
, 2005 Review on Waardenburg syndrome (WS), with data on clinics, and the genes ...
Bermejo-Rodrîguez, C +5 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT This report highlights the value of multidisciplinary collaboration, personalized care, dynamic monitoring of seizure activity, and innovative skin management in a 2‐month‐old with Phakomatosis Pigmentovascularis. In parallel, the nursing team implemented a multidimensional “medical–social–psychological” support model, providing psychological ...
Kaimin Chen +6 more
wiley +1 more source
Ocular disorders and other diseases in patients suffering from Waardenburg’s syndrome [PDF]
, 2012 Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones ...
Castro Pérez, Fidel +4 more
core +1 more source