Last Posted: Aug 27, 2022
- Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Llerena Juan et al. BMC pediatrics 2022 22(1) 492
- Optimising care and follow-up of adults with achondroplasia.
Fredwall Svein et al. Orphanet journal of rare diseases 2022 17(1) 318
- Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
Hoover-Fong Julie E et al. Orphanet journal of rare diseases 2021 16(1) 522
- International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan Ravi et al. Nature reviews. Endocrinology 2021
- Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
- Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
R Savariyan et al GIM, August 2, 2021
- Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021
- Clinical Practice Guidelines for Achondroplasia.
Kubota Takuo et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020 29(1) 25-42
- Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Yuan et al. Prenatal diagnosis 2018 38(11) 821-828
- Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738
About Rare Diseases PHGKB
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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, 2023
- Page last updated:Mar 23, 2023
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