Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.

Steinle, Jacob; Hossain, Waheeda A; Veatch, Olivia J; Strom, Samuel P; Butler, Merlin G

Steinle, Jacob; Hossain, Waheeda A; Veatch, Olivia J; Strom, Samuel P; Butler, Merlin G.

Affiliation

Steinle J; Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA.
Hossain WA; Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA.
Veatch OJ; Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA.
Strom SP; Fulgent Genetics, Temple City, California, USA.
Butler MG; Illumina, Inc., San Diego, California, USA.

Am J Med Genet A ; 188(10): 3016-3023, 2022 10.

Article in En | MEDLINE | ID: mdl-35903967

Subject(s)

Connective Tissue Diseases; Ehlers-Danlos Syndrome; Marfan Syndrome; Skin Abnormalities; ADAMTS Proteins/genetics; Connective Tissue/metabolism; Connective Tissue Diseases/diagnosis; Connective Tissue Diseases/genetics; Ehlers-Danlos Syndrome/diagnosis; Ehlers-Danlos Syndrome/genetics; High-Throughput Nucleotide Sequencing; Humans; Marfan Syndrome/diagnosis; Marfan Syndrome/genetics

Key words

Ehlers-Danlos syndrome; bioinformatics; consecutive patient cohort; gene variants and classification; heritable connective tissue disorders; next-generation sequencing (NGS)

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Connective Tissue Diseases / Ehlers-Danlos Syndrome / Marfan Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States

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