Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome.

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome.
Clin Genet. 2020 May 15;:
Authors: Cordeddu V, Macke EL, Radio FC, Cicero SL, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A, Deciphering Developmental Disorders Study, Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M
PMID: 32415735 [PubMed - as supplied by publisher]

Source: Clinical Genetics - May 14, 2020 Category: Genetics & Stem Cells Authors: Cordeddu V, Macke EL, Radio FC, Cicero SL, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A, Tags: Clin Genet Source Type: research