Proteus Syndrome
What's New
Last Posted: Sep 09, 2023
- Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Bin Zhang, et al. Orphanet journal of rare diseases 2023 0 (1) 261 - Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Tian Wen, et al. Orphanet journal of rare diseases 2020 10 (1) 288 - Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde Emilie et al. Molecular genetics & genomic medicine 2019 Feb - CLINGEN Actionability Report for PTEN Hamartoma Tumor Syndrome - Cowden Syndrome-PTEN
ClinGen Actionability Working Group - Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Chang Fengqi et al. The Journal of molecular diagnostics : JMD 2017 Jul 19(4) 613-624 - Proteus syndrome
From NCATS Genetic and Rare Diseases Information Center - Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
Buxbaum Joseph D, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 6 (4) 484-91 - Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
Butler M G, et al. Journal of medical genetics 2005 4 (4) 318-21
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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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