Article
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2022
Ritter Alyssa L, Gold Jessica, Hayashi Hiroshi, Ackermann Amanda M, Hanke Stephanie, Skraban Cara, Cuddapah Sanmati, Bhoj Elizabeth, Li Dong, Kuroda Yukiko, Wen Jessica, Takeda Ryojun, Bibb Audrey, El Chehadeh Salima, Piton Amélie, Ohl Jeanine, Kukolich Mary K, Nagasaki Keisuke, Kato Kohji, Ogi Tomoo, Bhatti Tricia, Russo Pierre, Krock Bryan, Murrell Jill R, Sullivan Jennifer A, Shashi Vandana, Stong Nicholas, Hakonarson Hakon, Sawano Kentaro, Torti Erin, Willaert Rebecca, Si Yue, Wilcox William Ross, Wirgenes Katrine Verena, Thomassen Kristian, Carlotti Katherine, Erwin Angelika, Lazier Joanna, Marquardt Thorsten, He Miao, Edmondson Andrew C, Izumi Kosuke
Abstract excerpt
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. RESULTS: In total, we identified 14 cases of ARCN1-related syndrome, (9 pediatrics, and 5 fetal cases from 3...
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