Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial-Reference-Cited by-同舟云学术

Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial

Published:2022-11 Issue:11 Volume:19 Page:1871-1880
ISSN:2329-6933
Container-title:Annals of the American Thoracic Society
language:en
Short-container-title:Annals ATS

Author:

Keppler-Noreuil Kim M.¹,Burton-Akright Jasmine¹,Kleiner David E.²,Sapp Julie C.³,Lindhurst Marjorie J.³,Han Chen G.⁴,Biesecker Leslie G.³,Gochuico Bernadette R.⁴

Affiliation:

1. Medical Genomics and Metabolic Genetics Branch,

2. Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland

3. Center for Precision Health Research, and

4. Medical Genetics Branch, National Human Genome Research Institute, and

Funder

Intramural Research Programs of the National Human Genome Research Institute

National Cancer Institute

Publisher

American Thoracic Society

Subject

Pulmonary and Respiratory Medicine

Link

https://www.atsjournals.org/doi/pdf/10.1513/AnnalsATS.202111-1214OC

Reference34 articles.

1. A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

2. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

3. The challenges of Proteus syndrome: diagnosis and management

4. Proteus Syndrome

5. Compromise of the spinal canal in Proteus syndrome

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1. A cystic and bullous lung disease associated with a PIK3CA-related overgrowth syndrome;ERJ Open Research;2024-02-29

2. Quantification of Proteus syndrome-associated lung disease;Orphanet Journal of Rare Diseases;2024-02-06