Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10...

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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Wiley 2021-10-01
سلاسل:	Molecular Genetics & Genomic Medicine
الموضوعات:	CRISPR Genitopatellar syndrome KAT6B‐related disorders phenotypic spectrum Say‐Barber‐Biesecker‐Young‐Simpson syndrome variable expressivity, rare genetic diagnosis
الوصول للمادة أونلاين:	https://doi.org/10.1002/mgg3.1809
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!