LAUSR.org creates dashboard-style pages of related content for over 1.5 million academic articles. Sign Up to like articles & get recommendations!

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype

Photo from wikipedia

Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics,… Click to show full abstract

Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Ortahisar, Trabzon, 61100 Turkey Tel: +90 505 812 03 34; fax: +90 462 377 51 06; e-mail: [email protected]

Keywords: medicine; proximal exon; frameshift variant; genetics; novel frameshift; variant proximal

Journal Title: Clinical Dysmorphology
Year Published: 2021

Link to full text (if available)


Share on Social Media:                               Sign Up to like & get
recommendations!

Related content

More Information              News              Social Media              Video              Recommended



                Click one of the above tabs to view related content.