Fryns Syndrome
What's New
Last Posted: Mar 01, 2023
- Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.
Geni? Bahad?r, et al. Turk psikiyatri dergisi = Turkish journal of psychiatry 2020 0 (3) 216-220 - Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin Martin, et al. Journal of medical genetics 2020 0 (7) 466-474 - Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong Lucy, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 0 (1) 37-48 - Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat Allan, et al. Epilepsia 2020 5 - Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018 - Cartwright Nelson Fryns syndrome
From NCATS Genetic and Rare Diseases Information Center - Die Smulders Vles Fryns syndrome
From NCATS Genetic and Rare Diseases Information Center - Frints De Smet Fabry Fryns syndrome
From NCATS Genetic and Rare Diseases Information Center - Fryns syndrome
From NCATS Genetic and Rare Diseases Information Center - Petit-Fryns syndrome
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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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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