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Vol. 74. Issue 6.
Pages 551-553 (June 2021)
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Vol. 74. Issue 6.
Pages 551-553 (June 2021)
Scientific letter
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases
Síndrome de Shprintzen-Goldberg y dilatación aórtica: a propósito de dos nuevos casos
Juan Pablo Trujillo-Quinteroa,
Corresponding author

Corresponding author:
, Elisabeth Gabau Vilaa, José María Larrañaga Moreirab, Anna Ruiz Nel·loc, Lorenzo Monserratd, Roberto Barriales-Villab,e
a Unitat de Genètica Clínica, Servei de Medicina Pediàtrica, Parc Taulí Hospital Universitari, Sabadell, Barcelona, Spain
b Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario A Coruña (CHUAC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Galicia, Spain
c Laboratorio de Genética de la UDIAT-CD, Parc Taulí Hospital Universitari, Sabadell, Barcelona, Spain
d Departamento Clínico, Health in Code, A Coruña, Galicia, Spain
e Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
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Table 1. Phenotypes of patients 1 and 2 and of carriers of variants affecting amino acids Thr180 and Pro35


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