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An overview of Dent disease [PDF]
Childhood Kidney Diseases, 2023 Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice.
Eun Mi Yang, Seong Hwan Chang
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Late ophthalmology findings in a X-linked juvenile retinoschisis patient [PDF]
Revista Brasileira de Oftalmologia, 2021 X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of ...
Paulo Rodolfo Tagliari Barbisan +1 more
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Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome [PDF]
Anais Brasileiros de Dermatologia, 2014 The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.
Hiram Larangeira de Almeida Jr. +5 more
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The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients [PDF]
, 2022 Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body ...
Bulanov, Nikolay +13 more
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Anais Brasileiros de Dermatologia, 2014 Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth.
Claudia Schermann Poziomczyk +12 more
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Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis [PDF]
Anais Brasileiros de Dermatologia, 2014 Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented ...
Gabriela Franco Marques +2 more
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X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3 [PDF]
, 2021 Osteogenesis imperfecta (OI) represents a complex spectrum of genetic bone diseases that occur primarily due to mutations and deletions of the COL1A1 and COL1A2 genes.
Dalibor Krpan +15 more
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Molecular Genetics & Genomic Medicine, 2023 Background Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, maternal carrier ...
Elizabeth A. Ulm +3 more
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Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications
Oman Medical Journal, 2021 In this case report, we review a male child who presented with severe bilateral hearing loss. Preoperative high-resolution computed tomography (HRCT) evaluation facilitated the initial diagnosis of the disease, which revealed typical findings of cochlear
Raya Salim Al-Busaidi +4 more
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