The characterization of Lowe Syndrome in a South African cohort [PDF]
, 2021 Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized by a triad of congenital cataracts, proximal renal tubular dysfunction, and variable central nervous system involvement.
Sulaiman-Baradien, Rizqa
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Management of Congenital Diaphragmatic Hernia (CDH): role of molecular genetics [PDF]
, 2021 Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction ...
Cannata Giulia +4 more
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Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon [PDF]
, 2021 Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight ...
Anglani, Franca +3 more
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A 3d renal proximal tubule on chip model phenocopies Lowe syndrome and Dent II disease tubulopathy [PDF]
, 2021 Lowe syndrome and Dent II disease are X‐linked monogenetic diseases characterised by a renal reabsorption defect in the proximal tubules and caused by mutations in the OCRL gene, which codes for an inositol‐5‐phosphatase.
Elstak, E.D. +9 more
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Genetic Consultations in Neuroophthalmology [PDF]
, 2017 The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their ...
Klein, D.
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Buftalmus em adulto: relato de caso [PDF]
To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia.
Alves, Mônica +2 more
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Наследственные глаукомы: клинико-генетическая характеристика [PDF]
, 2022 The review is devoted to the genetic nature of congenital glaucoma (CG) and presents clinical and genetic forms of hereditary glaucoma and single nucleotide polymorphisms identified by genome-wide association studies (GWAS).
E. A. Egorov +5 more
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Corneal Opacification in Infancy [PDF]
, 1972 The purpose of this paper is to present a systematic classification of the more important conditions that can manifest as corneal opacification in early infancy and to state its differential diagnostic ...
Ching, Florencio C.
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Эиопатогенетические аспекты, клинические проявления и особенности лечения околоцереброренального синдрома. Описание клинического случая [PDF]
, 2021 Etiopathogenetic aspects, clinical manifestations and particulars of treatment of oculocerebrorenal syndrome. The clinical case presentationIntroducere.
Beniş, Svetlana +8 more
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A case of Lowe syndrome (oculocerebrorenal syndrome): Clinical implications and anaesthetic management [PDF]
, 2010 No ...
Patil, S, Ramanathan, G
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