Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 4, 2014, Pages 1015-1020

  Gargano, Giancarlo ^a   Guidotti, Isotta ^a,b   Balestri, Eleonora ^a,b   Vagnarelli, Federica ^a   Rosato, Simonetta ^a   Comitini, Giuseppina ^a   Wischmeijer, Anita ^a,c   La Sala, Giovanni Battista ^a   Iughetti, Lorenzo ^b   Cordeddu, Viviana ^d   Rossi, Cesare ^c   Tartaglia, Marco ^d   Garavelli, Livia ^a  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Fetal hydrops; Noonan like syndrome with loose anagen hair; RASopathies; SHOC2

Indexed keywords

ALBUMIN; FRESH FROZEN PLASMA; SHOC2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ABNORMAL RESPIRATORY SOUND; ANURIA; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; ASCITES; BLOOD CLOTTING DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; DISEASE SEVERITY; ERYTHROBLASTOPENIA; FACE DYSMORPHIA; FETAL DOPPLER; FETUS ECHOGRAPHY; FETUS HYDROPS; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENOME ANALYSIS; GESTATIONAL AGE; HEART ARRHYTHMIA; HETEROZYGOTE DETECTION; HUMAN; HYDRAMNIOS; HYPERTELORISM; HYPOALBUMINEMIA; HYPOTENSION; IMAGE ANALYSIS; MALE; MEDICAL HISTORY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEWBORN; NOONAN SYNDROME; OUTCOME ASSESSMENT; PALPEBRAL FISSURE; PHYSICAL EXAMINATION; PLASMA TRANSFUSION; PLEURA EFFUSION; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; PROMINENT EAR; SEQUENCE ANALYSIS; SHOC2 GENE; SKIN EDEMA; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; CASE REPORT; GENETICS; HETEROZYGOTE; LOOSE ANAGEN HAIR SYNDROME; MUTATION;

HETEROZYGOTE; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LOOSE ANAGEN HAIR SYNDROME; MUTATION; NOONAN SYNDROME;

EID: 84896317681     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36376     Document Type: Article

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