Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

Author:

Gargano Giancarlo1,Guidotti Isotta12,Balestri Eleonora12,Vagnarelli Federica1,Rosato Simonetta3,Comitini Giuseppina4,Wischmeijer Anita35,La Sala Giovanni Battista4,Iughetti Lorenzo6,Cordeddu Viviana7,Rossi Cesare5,Tartaglia Marco7,Garavelli Livia3

Affiliation:

1. Neonatologic Unit, Obstetric and Paediatric Department; Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital; Reggio Emilia Italy

2. Post-Graduate School of Pediatrics; University of Modena and Reggio Emilia; Modena Italy

3. Clinical Genetics Unit, Obstetric and Paediatric Department; Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital; Reggio Emilia Italy

4. Obstetric and Gynecologic Unit, Obstetric and Paediatric Department; Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital; Reggio Emilia Italy

5. Department of Medical Genetics; Policlinico Sant'Orsola-Malpighi, University of Bologna; Bologna Italy

6. Department of Medical and Surgical Sciences of Childhood and Adult; University of Modena and Reggio Emilia; Modena Italy

7. Department of Haematology; Oncology and Molecular Medecine, Istituto Superiore di Sanità; Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. The face of Noonan syndrome: Does phenotype predict genotype;Allanson;Am J Med Genet Part A,2010

2. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am J Hum Genet,2013

3. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translycency and normal karyotype;Bakker;Prenat Diagn,2011

4. Prenatal features of Noonan syndrome: Prevalence and prognostic value;Baldassarre;Prenat Diagn,2011

5. Persistence of nuchal edema and distended jugular lymphatic sacs in Noonan syndrome;Bekker;Fetal Diagn Ther,2007

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