Results 171 to 180 of about 5,505 (212)
Some of the next articles are maybe not open access.
Newborn With Oculocutaneous Albinism
Journal of Pediatric Health Care, 2014MEDICAL AND OBSTETRICAL HISTORY Themother’s medical historywas benign except for excision of a gangrenous lesion from her right hand. Her obstetrical history was not significant for any previous genetic disorders. She was identified as gravida 4, para 1.
Ebony, Beaudoin +2 more
openaire +2 more sources
RETINOBLASTOMA IN OCULOCUTANEOUS ALBINISM
RETINAL Cases & Brief Reports, 2010To report a case of retinoblastoma in a child with oculocutaneous albinism (OCA).A 24-month-old girl with classic features of OCA developed leukocoria in the left eye.The patient was found to have an endophytic retinoblastoma and an exophytic retinoblastoma, with a total retinal detachment and neovascularization of the iris. Enucle-ation was performed,
Fariba, Ghassemi +4 more
openaire +2 more sources
Annales de pediatrie, 1992
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.
J P, Lacour, J P, Ortonne
openaire +1 more source
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.
J P, Lacour, J P, Ortonne
openaire +1 more source
Developmental glaucoma in oculocutaneous albinism
Ophthalmic Paediatrics and Genetics, 1988A case of oculocutaneous albinism is described in which bilateral Axenfeld's anomaly co-exists. Progressive elevation of intraocular pressure required treatment and this complication has not been reported. Different hypotheses regarding the co-existence of these conditions are reviewed.
D F, Larkin, H N, O'Donoghue
openaire +2 more sources
Molecular genetics of oculocutaneous albinism
Human Molecular Genetics, 1994Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway.
openaire +3 more sources
Oculocutaneous albinism spectrum
American Journal of Medical Genetics Part A, 2009Pei-Wen, Chiang +2 more
openaire +2 more sources
Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
exaly