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Case Report - Juvenile hyaline fibromatosis in siblings, 12/2005
Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp,... 
Juvenile hyaline fibromatosis, Chondroid appearance, Autosomal recessive
Journal
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 01/2019, Volume 39, Issue 1, pp. E4 - E4
Journal Article
Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations, 12/2003
Seventy cases of primary degenerative cerebellar ataxias in ethnic Bengalees from southern West Bengal, India, were studied by the authors. Of these, 50 cases... 
Cerebellar ataxia, Autosomal recessive, Autosomal dominant, Ethnic variations
Journal
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 09/2015, Volume 35, Issue 9, pp. e58 - e58
Journal Article
2017, First edition., Human diseases and conditions collection, ISBN 9781944749743, xii, 71 pages
Book
Connexin 26 and autosomal recessive non-syndromic hearing loss, 07/2003
Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60%... 
hg03010 Non-syndromic, Hearing loss, Autosomal recessive, Connexin 26, DFNB1, mutation detection, Gap junction proteins, GJB2 | Genetics
Journal
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 09/2015, Volume 35, Issue 9, pp. e57 - e58
Journal Article
Guoji Yanke Zazhi, ISSN 1672-5123, 12/2019, Volume 19, Issue 12, pp. 2056 - 2060
Retinal pigmentosa(RP)is a hereditary blinding retinal disease whose pathogenesis is not fully understand. It is characterized by night blindness, progressive... 
gene | retinal pigmentosa | autosomal recessive | research progress
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 12/2018, Volume 12, Issue 12, pp. ID01 - ID02
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 08/2018, Volume 12, Issue 8, pp. SD03 - SD05
Journal Article
JOURNAL OF NEUROLOGY, ISSN 0340-5354, 11/2014, Volume 261, Issue 11, pp. 2192 - 2198
Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis... 
Autosomal recessive ataxia | Mitochondrial | ANO10 | PATIENT | Coenzyme Q (CoQ) deficiency | CLINICAL NEUROLOGY | REVEALS
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 01/2018, Volume 125, Issue 1, pp. 75 - 88
Purpose To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). Design Retrospective, observational,... 
AUTOSOMAL RECESSIVE BESTROPHINOPATHY | DYSTROPHY | HYPOTHESIS | DISEASE | OPHTHALMOLOGY | CHOROIDAL NEOVASCULARIZATION | CORTICOSTEROIDS | AUTOFLUORESCENCE
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2020, Volume 106, Issue 1, pp. 129 - 136
Birth defects occur in up to 3% of all live births and are the leading cause of infant death. Here we present five individuals from four unrelated families,... 
NAD | de novo NAD synthesis | Congenital NAD Deficiency Disorder | kynurenine pathway | VACTERL | NADSYN1 | autosomal recessive
Journal Article
Brazilian Dental Science, ISSN 2178-6011, 04/2019, Volume 22, Issue 2, pp. 155 - 162
Objective: To systematically review the data and results of case reports of autosomal recessive syndromes associated with periodontitis. Material and Methods:... 
Syndromes | Periodontium | Autosomal recessive | Periodontitis | Gingiva
Journal Article
BONE, ISSN 8756-3282, 01/2019, Volume 130, p. 115144
Objective: Autosomal recessive osteopetrosis (ARO) is a rare congenital disorder of defective bone resorption. The inability of osteoclasts to resorb bone... 
Autosomal recessive osteopetrosis | Magnetic resonance imaging | Bone marrow space volume | GENETICS | Hematopoietic stem cell transplantation | ENDOCRINOLOGY & METABOLISM
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 11/2019, Volume 60, Issue 14, pp. 4811 - 4819
PURPOSE. Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor... 
RETINAL DEGENERATION | RP2 | ARL3 | cone rod dystrophy | GENES | retinitis pigmentosa | TRAFFICKING | OPHTHALMOLOGY | MUTATIONS | PROTEINS | GTPASE | autosomal recessive | Retina
Journal Article
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