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Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 11/2019, Volume 32, Issue 11, pp. 1299 - 1303
Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who... 
variant | congenital hypothyroidism
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0178753 - e0178753
Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment... 
DIABETIC-RETINOPATHY | ANGIOGENESIS | GENE | MULTIDISCIPLINARY SCIENCES | PERICYTE MIGRATION | HYPOXIA | PREMATURITY | Angiography | Capillaries - pathology | Nerve Tissue Proteins - deficiency | Blindness - pathology | Spasms, Infantile - genetics | Nervous System Diseases - genetics | Neovascularization, Pathologic - etiology | Neovascularization, Pathologic - pathology | Cell Hypoxia | Retinal Vessels - pathology | Retinal Degeneration | Lasers | Retinal Vessels - diagnostic imaging | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Blindness - congenital | Eye Proteins - genetics | Nervous System Diseases - diagnostic imaging | Disease Models, Animal | Nervous System Diseases - pathology | Electroretinography | Nerve Tissue Proteins - physiology | Mice, Inbred C57BL | Spasms, Infantile - diagnostic imaging | Nerve Tissue Proteins - genetics | Blindness - genetics | Disease Progression | Mice, Knockout | Blindness - diagnostic imaging | Spasms, Infantile - pathology | Animals | Genetic Diseases, X-Linked - pathology | Eye Proteins - physiology | Mice | Ophthalmoscopy - methods | Homeostasis | Blood circulation disorders | Complications and side effects | Norrie disease | Research | Risk factors | Diabetic retinopathy | Disease | Impairment | Retina | Visual perception | Defects | Angiogenesis | Toxicology | Functional anatomy | Developmental stages | Neurodegeneration | Rodents | Abnormalities | Nutrition research | Signaling | Morphology | Blindness | Stem cells | Hypoxia | Diabetes | Mutation | Morphometry | Methods | Long-term effects | Integrity | Index Medicus | Life Sciences | Human health and pathology | Sensory Organs
Journal Article
Scientific reports, 04/2018, Volume 8, Issue 1, p. 5970
Mutations in the Norrin (NDP) gene cause severe developmental blood vessel defects in the retina leading to congenital blindness. In the retina of... 
Journal Article
Thyroid, ISSN 1050-7256, 07/2019, Volume 29, Issue 7, pp. 118 - 1022
Six patients are described with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing... 
Brief Reports on Novel Mutations Associated With Inherited Thyroid Disorders | airway compromise | dyshormonogenesis | ENDOCRINOLOGY & METABOLISM | French-Canadian | BIRTH | congenital hypothyroidism | DUOX2
Journal Article
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