A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C

Upadia, J; Gonzales, PR; Atkinson, TP; Schroeder, HW; Robin, NH; Rudy, NL; Mikhail, FM

Upadia, J (reprint author), Univ Alabama Birmingham, Dept Med Genet, 720 20 St South,Suite 200, Birmingham, AL 35294 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018; 176 (12): 2791

Abstract

Phelan-McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q1......

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