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Heterozygous nonsense ARX mutation in a family highlights t..:
Traversa, Alice
;
Marchionni, Enrica
;
Giovannetti, Agnese
...
Molecular Genetics & Genomic Medicine. 8 (2020) 8 - p. , 2020
Link:
https://doi.org/10.1002/mgg3.1336
RT Journal T1
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mgg3.1336&Exemplar=1&LAN=DE A1 Traversa, Alice A1 Marchionni, Enrica A1 Giovannetti, Agnese A1 Genovesi, Maria L. A1 Panzironi, Noemi A1 Margiotti, Katia A1 Napoli, Giulia A1 Piceci Sparascio, Francesca A1 De Luca, Alessandro A1 Petrizzelli, Francesco A1 Carella, Massimo A1 Cardona, Francesco A1 Bernardo, Silvia A1 Manganaro, Lucia A1 Mazza, Tommaso A1 Pizzuti, Antonio A1 Caputo, Viviana PB Wiley YR 2020 SN 2324-9269 SN 2324-9269 JF Molecular Genetics & Genomic Medicine VO 8 IS 8 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.1336 DO https://doi.org/10.1002/mgg3.1336 SF ELIB - SuUB Bremen
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