{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T20:10:25Z","timestamp":1784146225647,"version":"3.55.0"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Fetal hydrops is a condition resulting from interstitial fluid accumulation in fetal compartments secondary to increased capillary permeability and characterized by high rates of perinatal mortality and morbidity. Clinical features include skin edema, hydrothorax, pericardial effusion, ascites with or without polyhydramnios, and placental edema. While it may occur as associated feature in multiple disorders, it has been documented to recur in Noonan syndrome, the most common disorder among RASopathies, but also in cardiofaciocutaneous and Costello syndromes. Here, we report on the occurrence of severe hydrops in a newborn heterozygous for the invariant c.4A&gt;G missense change in <jats:italic>SHOC2<\/jats:italic> which underlies Noonan\u2010like syndrome with loose anagen hair, documenting that it represents a clinically relevant complication in this condition, shared by RASopathies. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36376","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T20:06:49Z","timestamp":1390507609000},"page":"1015-1020","source":"Crossref","is-referenced-by-count":29,"title":["Hydrops fetalis in a preterm newborn heterozygous for the c.4A&gt;G <i>SHOC2<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Giancarlo","family":"Gargano","sequence":"first","affiliation":[{"name":"Neonatologic Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isotta","family":"Guidotti","sequence":"additional","affiliation":[{"name":"Neonatologic Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital Reggio Emilia Italy"},{"name":"Post\u2010Graduate School of Pediatrics University of Modena and Reggio Emilia Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Balestri","sequence":"additional","affiliation":[{"name":"Neonatologic Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. 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Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Comitini","sequence":"additional","affiliation":[{"name":"Obstetric and Gynecologic Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Wischmeijer","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital Reggio Emilia Italy"},{"name":"Department of Medical Genetics Policlinico Sant'Orsola\u2010Malpighi, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni Battista","family":"La Sala","sequence":"additional","affiliation":[{"name":"Obstetric and Gynecologic Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. Maria Nuova Hospital Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of Childhood and Adult University of Modena and Reggio Emilia Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Cordeddu","sequence":"additional","affiliation":[{"name":"Department of Haematology Oncology and Molecular Medecine, Istituto Superiore di Sanit\u00e0 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Policlinico Sant'Orsola\u2010Malpighi, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Department of Haematology Oncology and Molecular Medecine, Istituto Superiore di Sanit\u00e0 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, S. 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