Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant-Reference-Cited by-同舟云学术

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

Published:2021-01 Issue:1 Volume:64 Page:104116
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ciaccio Claudia,Duga Valentina^ORCID,Pantaleoni Chiara,Esposito Silvia,Moroni Isabella,Pinelli Michele,Castello Raffaele,Nigro Vincenzo,Chiapparini Luisa,D'Arrigo Stefano,Torella Annalaura,Cappuccio Gerarda,Musacchia Francesco,Mutarelli Margherita,Carrella Diego,Vitiello Giuseppina,Parenti Giancarlo,Capra Valeria,Leuzzi Vincenzo,Selicorni Angelo,Maitz Silvia,Brunetti-Pierri Nicola,Banfi Sandro,Zollino Marcella,Montomoli Martino,Milani Donatella,Romano Corrado,Tummolo Albina,De Brasi Daniele,Coppola Antonietta,Santoro Claudia

Funder

Fondazione Telethon

Fondazione Pierfranco e Luisa Mariani

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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