Spondyloepiphyseal Dysplasia
What's New
Last Posted: Mar 04, 2023
- Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura Michie, et al. Scientific reports 2019 0 (1) 11976 - Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Liang Hanting, et al. Calcified tissue international 2021 0 (3) 313-323 - Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Akahira-Azuma Moe, et al. Human genome variation 2022 0 (1) 16 - Autosomal dominant spondyloepiphyseal dysplasia tarda
From NCATS Genetic and Rare Diseases Information Center - Spondyloepiphyseal dysplasia
From NCATS Genetic and Rare Diseases Information Center - Spondyloepiphyseal dysplasia congenita
From NCATS Genetic and Rare Diseases Information Center - Spondyloepiphyseal dysplasia Maroteaux type
From NCATS Genetic and Rare Diseases Information Center - Spondyloepiphyseal dysplasia tarda X-linked
From NCATS Genetic and Rare Diseases Information Center - Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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