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American Journal of Medical Genetics. Part A|December 28, 2020
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axisYuri Sakaguchi, Hiroshi Yoshihashi, Tomoko Uehara, et al.American Journal of Medical Genetics. Part A|December 28, 2020
Prevalence and risk factors of radial ray deficiencies: A population-based case-control studyJohanna Syvänen, Arimatias Raitio, Ilkka Helenius, et al.American Journal of Medical Genetics. Part A|September 18, 2020
Ophthalmological abnormalities in Down syndrome among Brazilian patientsBeatriz Elizabeth Bagatin Veleda Bermudez, Maria Eduarda de Souza do Amaral, Charles da Silva Gomes, et al.American Journal of Medical Genetics. Part A|December 28, 2019
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophyBryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, et al.American Journal of Medical Genetics. Part A|January 12, 2020
Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardiumShogo Akahoshi, Akinori Hirano, Hiroki Nagamine, et al.American Journal of Medical Genetics. Part A|December 29, 2019
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case seriesYirou Wang, Niu Li, Zhe Su, et al.American Journal of Medical Genetics. Part A|December 10, 2019
A mixed methods study of physical activity and quality of life in adolescents with Turner syndromeTalia Thompson, Brianna Zieba, Susan Howell, et al.American Journal of Medical Genetics. Part A|April 5, 2020
Caregiver-reported clinical characteristics and the burden associated with Kabuki syndromeChristina Theodore-Oklota, Shayna Egan, Maggie Paulich, et al.American Journal of Medical Genetics. Part A|September 12, 2020
Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATMSimone Schröder, Britta Wieland, Andreas Ohlenbusch, et al.American Journal of Medical Genetics. Part A|April 7, 2020
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center studyCarolina I Galarreta, Florin Vaida, Lynne M BirdPageof 928