Results 71 to 80 of about 7,578 (154)
Oculocutaneous albinism: an African perspective
British and Irish Orthoptic Journal, 2014 Aim: To describe the genetics behind oculocutaneous albinism (OCA), and explore OCA in an African context in terms of the effects on the health and education of individuals with OCA.
Geraldine R. Mcbride
doaj +1 more source
Rare Germline Variants in CDKN2A‐Negative Children and Adolescents With Cutaneous Melanoma
Pigment Cell &Melanoma Research, Volume 39, Issue 2, March 2026.Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Peter A. Johansson +10 more
wiley +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Congenital Anomalies, Volume 66, Issue 1, January/December 2026.ABSTRACT Teratology, the study of congenital anomalies, has developed from a descriptive discipline into a mechanistic science focused on the proximate causes of developmental defects, meaning how such anomalies arise during development. However, a comprehensive understanding requires not only this mechanistic insight but also an evolutionary ...
Tetsuo Kon
wiley +1 more source
, 2013 The study sought to investigate the psychosocial implications of oculocutaneous albinism (OCA) among members of the Manicaland Albino Association in Mutare urban.
Mutasa, Fungai L.
core
Molecular Ecology, Volume 35, Issue 1, January 2026.ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki +7 more
wiley +1 more source
Distribution of oculocutaneous albinism in Zimbabwe.
, 1996 A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even.
Lund, Patricia M.
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Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino
Indian Journal of Dermatology, 2009 A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration.
Ramalingam Vijaya +2 more
doaj
, 2011 A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia ...
Seven, Mehmet +5 more
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